R596W (p.Arg596Trp) variant of F2 (Prothrombin)
R596W (p.Arg596Trp) 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 0.56 / 1. The record also includes population frequency data and structural context.
R596W (p.Arg596Trp) variant details
- p.Arg596Trp
- rs1183827513
- ClinGen CA380259621
- ClinVar RCV003516331
- TOPMed rs1183827513
- Pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.68
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available