R461W (p.Arg461Trp) variant of F2 (Prothrombin)
R461W (p.Arg461Trp) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R461W (p.Arg461Trp) variant details
- p.Arg461Trp
- rs121918478
- ClinGen CA123005
- ClinVar RCV002468925
- ClinVar RCV005411295
- Pathogenic/Likely pathogenic
- not provided; Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.82
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital prothrombin deficiency)
- EBI: Pathogenic (in FA2D)
- UniProt: Pathogenic (in FA2D)
- Population evidence available
- Structural context available
- Cited in: Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the… (PMID 1349838)
- Cited in: Congenital prothrombin deficiency. (PMID 19598065)