R425H (p.Arg425His) variant of F2 (Prothrombin)
R425H (p.Arg425His) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R425H (p.Arg425His) variant details
- p.Arg425His
- rs121918485
- ClinGen CA123022
- NCI-TCGA Cosmic COSV6131
- cosmic curated COSV61316
- Pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic (in FA2D)
- UniProt: Pathogenic (in FA2D)
- Population evidence available
- Structural context available
- Cited in: Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin… (PMID 11154146)
- Cited in: Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a… (PMID 12149217)