APOB P2739L - GET-Evidence

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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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Curation:
Currentness:

APOB P2739L

(APOB Pro2739Leu)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: Probably damaging 0.890
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 97.78; Class C65
Variant Effect Predictor (Ensembl):
PolyPhen=probably_damaging(0.988)
Mutation Tasting Prediction: Polymorphism, P value: 0.998408; no protein features affected.

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr2:21231524: 19.7% (2124/10758) in EVS
  • A @ chr2:21085028: 20.3% (26/128) in GET-Evidence
  • Frequency shown in summary reports: 19.7% (2124/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr2:21231524

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr2:21231524

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het A @ chr2:21085029

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr2:21231524

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
het A @ chr2:21231524

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr2:21231524

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr2:21231524

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr2:21231524

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het A @ chr2:21085029

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr2:21231524

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr2:21231524

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
het A @ chr2:21231524

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr2:21231524

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr2:21231524

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr2:21231524

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr2:21231524

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr2:21231524

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr2:21231524

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom A @ chr2:21231524

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr2:21085029

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr2:21085029

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr2:21085029

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr2:21085029

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr2:21085029

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr2:21085029

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr2:21085029

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr2:21085029

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr2:21085029

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr2:21085029

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr2:21085029

 

Other external references
 

    dbSNP
  • rs676210
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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