A37V (p.Ala37Val) variant of F9 (Coagulation factor IX)
A37V (p.Ala37Val) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Warfarin sensitivity, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- rs1327097914
- ClinGen CA414435437
- ClinVar RCV000011406
- UniProt VAR 083981
- Pathogenic
- Warfarin sensitivity, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Warfarin sensitivity, X-linked)
- EBI: Pathogenic (in WARFS)
- UniProt: Pathogenic (in WARFS)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional… (PMID 29450643)
- Cited in: Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause… (PMID 9233593)