R425C (p.Arg425Cys) variant of F2 (Prothrombin)
R425C (p.Arg425Cys) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R425C (p.Arg425Cys) variant details
- p.Arg425Cys
- rs121918479
- ClinGen CA123007
- ClinVar RCV002468926
- UniProt VAR 006715
- Likely pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic (in FA2D)
- UniProt: Pathogenic (in FA2D)
- Population evidence available
- Structural context available
- Cited in: Congenital hypoprothrombinemic states. (PMID 13217497)
- Cited in: Hereditary hypoprothrombinaemias. (PMID 14489469)