R42Q (p.Arg42Gln) variant of F2 (Prothrombin)
R42Q (p.Arg42Gln) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- gnomAD rs1263681706
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.69
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available