R42W (p.Arg42Trp) variant of F2 (Prothrombin)
R42W (p.Arg42Trp) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- rs2502815919
- ClinGen CA380260400
- ClinVar RCV003516328
- Conflicting interpretations
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.85
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital prothrombin deficiency)
- UniProt: Conflicting interpretations
- Population evidence available
- Structural context available