FAAH P129T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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(FAAH Pro129Thr)

Short summary


Variant evidence
Computational 3

PolyPhen: Benign, score 0.000
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 37.56; Class C 35
Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism, P value: 0.269593; protein features (might be) affected (aa 30-403 TOPO_DOM Cytoplasmic (By similarity) gets lost)

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr1:46870761: 25.6% (2753/10758) in EVS
  • A @ chr1:46643347: 35.5% (44/124) in GET-Evidence
  • Frequency shown in summary reports: 25.6% (2753/10758)


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PubMed PMID: 17290447


Zhang Y, Sonnenberg GE, Baye TM, Littrell J, Gunnell J, DeLaForest A, MacKinney E, Hillard CJ, Kissebah AH, Olivier M, Wilke RA. Obesity-related dyslipidemia associated with FAAH, independent of insulin response, in multigenerational families of Northern European descent. Pharmacogenomics. 2009 Dec;10(12):1929-39. doi: 10.2217/pgs.09.122. PubMed PMID: 19958092; PubMed Central PMCID: PMC3003434.




hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr1:46870761


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:46870761











hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr1:46870761



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr1:46870761





hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr1:46870761






huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr1:46870761



GS06985 - var-GS06985-1100-36-ASM
het A @ chr1:46643348


GS06994 - var-GS06994-1100-36-ASM
hom A @ chr1:46643348


GS10851 - var-GS10851-1100-36-ASM
hom A @ chr1:46643348


GS12004 - var-GS12004-1100-36-ASM
het A @ chr1:46643348


GS18501 - var-GS18501-1100-36-ASM
het A @ chr1:46643348


GS18504 - var-GS18504-1100-36-ASM
het A @ chr1:46643348


GS18505 - var-GS18505-1100-36-ASM
hom A @ chr1:46643348


GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:46643348


GS18517 - var-GS18517-1100-36-ASM
het A @ chr1:46643348


GS18555 - var-GS18555-1100-36-ASM
het A @ chr1:46643348


GS18942 - var-GS18942-1100-36-ASM
hom A @ chr1:46643348


GS18947 - var-GS18947-1100-36-ASM
het A @ chr1:46643348


GS19026 - var-GS19026-1100-36-ASM
het A @ chr1:46643348


GS19238 - var-GS19238-1100-36-ASM
het A @ chr1:46643348


GS19239 - var-GS19239-1100-36-ASM
het A @ chr1:46643348


GS19240 - var-GS19240-1100-36-ASM
het A @ chr1:46643348


GS19649 - var-GS19649-1100-36-ASM
het A @ chr1:46643348


GS19669 - var-GS19669-1100-36-ASM
hom A @ chr1:46643348


GS19700 - var-GS19700-1100-36-ASM
het A @ chr1:46643348


GS19703 - var-GS19703-1100-36-ASM
het A @ chr1:46643348


GS19704 - var-GS19704-1100-36-ASM
het A @ chr1:46643348


GS19735 - var-GS19735-1100-36-ASM
het A @ chr1:46643348


GS19834 - var-GS19834-1100-36-ASM
het A @ chr1:46643348


GS20509 - var-GS20509-1100-36-ASM
het A @ chr1:46643348


GS21767 - var-GS21767-1100-36-ASM
het A @ chr1:46643348


Other external references

  • rs324420
  • [Substance-Related Disorders]
    Risk or phenotype-associated allele: A Phenotype: Homozygous AA individuals were less likely to be cannabinoid dependent. Study size: 749 Study population/ethnicity: Healthy Caucasian Volunteers; Toronto, Canada Significance metric(s): p < 0.05 Type of association: CO
  • [Obesity]
    Risk or phenotype-associated allele: A. Phenotype: This nonsynonymous coding variant is associated with increased BMI, increased triglycerides, and reduced levels of high-density lipoprotein cholesterol. This is independent of insulin response. Study size: 1644 individuals from 261 families of northern european ancestry. Study population/ethnicity: northern european. Significance metric(s): BMI (P=0.042); fasting TG (p=0.022); HDL (p = 0.007). Type of association: GN; CO
  • Score: 0.001 (benign)

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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