A354V (p.Ala354Val) variant of F7 (Coagulation factor VII)
A354V (p.Ala354Val) 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 Myocardial infarction, susceptibility to; Congenital factor VII deficiency; Fact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A354V (p.Ala354Val) variant details
- p.Ala354Val
- rs36209567
- ClinGen CA121850
- ClinVar RCV000012857
- ClinVar RCV000851974
- Pathogenic/Likely pathogenic
- Myocardial infarction, susceptibility to; Congenital factor VII deficiency; Fact
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.46
- MetaLR 0.71
- MetaSVM 0.11
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (Myocardial infarction, susceptibility to; Congenital factor VII)
- EBI: Pathogenic (in FA7D)
- UniProt: Pathogenic (in FA7D)
- Population evidence available
- Structural context 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)