F5 D107H - 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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F5 D107H

(F5 Asp107His)

Short summary


Variant evidence
Computational 3

PolyPhen2: Benign, score 0.001
SIFT: Tolerated 0.31
GVGD: GV 81.24; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
Mutation Tasting Prediction: Polymorphism, P value: 0.044492; protein features (might be) affected (aa 30-193 DOMAIN Plastocyanin-like 1 gets lost; aa 30-329 DOMAIN F5/8 type A1 gets lost)

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


Insufficiently evaluated not reviewed

(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

  • G @ chr1:169541513: 15.7% (1692/10756) in EVS
  • G @ chr1:167808136: 14.8% (19/128) in GET-Evidence
  • Frequency shown in summary reports: 15.7% (1692/10756)





hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr1:169541513


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr1:169541513


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr1:169541513


GS18505 - var-GS18505-1100-36-ASM
het G @ chr1:167808137


GS18508 - var-GS18508-1100-36-ASM
hom G @ chr1:167808137


GS18517 - var-GS18517-1100-36-ASM
het G @ chr1:167808137


GS19017 - var-GS19017-1100-36-ASM
het G @ chr1:167808137


GS19020 - var-GS19020-1100-36-ASM
hom G @ chr1:167808137


GS19026 - var-GS19026-1100-36-ASM
het G @ chr1:167808137


GS19129 - var-GS19129-1100-36-ASM
hom G @ chr1:167808137


GS19238 - var-GS19238-1100-36-ASM
het G @ chr1:167808137


GS19239 - var-GS19239-1100-36-ASM
hom G @ chr1:167808137


GS19240 - var-GS19240-1100-36-ASM
het G @ chr1:167808137


GS19700 - var-GS19700-1100-36-ASM
het G @ chr1:167808137


GS21767 - var-GS21767-1100-36-ASM
hom G @ chr1:167808137


Other external references

  • rs6019
  • GeneTests records for the F5 gene
    Budd-Chiari Syndrome
    Factor V Cambridge Thrombophilia
    Factor V Deficiency
    Factor V Leiden Thrombophilia
    Factor V R2 Mutation Thrombophilia
    Web search results (1 hit -- see all)
  • cDNA-polymorphisms-table.doc
    ... orientation of the Factor V gene (F5). Nucleotide positions have been numbered in several ... 4 F5 exon 4 Bsp1286I (1) ss44108684; ABI|hCV 8919457 ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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