A304V (p.Ala304Val) variant of F7 (Coagulation factor VII)
A304V (p.Ala304Val) in F7 (Coagulation factor VII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Myocardial infarction, susceptibility to; Congenital factor VII de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
A304V (p.Ala304Val) variant details
- p.Ala304Val
- rs121964931
- ClinGen CA7060164
- cosmic curated COSV10066
- ClinVar RCV000852243
- Pathogenic/Likely pathogenic
- not provided; Myocardial infarction, susceptibility to; Congenital factor VII de
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.21
- MetaLR 0.84
- MetaSVM 0.76
- PolyPhen-2 0.99
- SIFT 0.05
- EVE 0.47
- ClinVar: Pathogenic/Likely pathogenic (not provided; Myocardial infarction, susceptibility to; Congenit)
- EBI: Pathogenic (in FA7D)
- UniProt: Pathogenic (in FA7D)
- Population evidence available
- Cited in: Twenty two novel mutations of the factor VII gene in factor VII deficiency. (PMID 10862079)
- Cited in: Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. (PMID 11129332)