R581C (p.Arg581Cys) variant of F2 (Prothrombin)
R581C (p.Arg581Cys) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R581C (p.Arg581Cys) variant details
- p.Arg581Cys
- ExAC rs768822664
- TOPMed rs768822664
- gnomAD rs768822664
- Pathogenic/Likely pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.82
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available