R5Q (p.Arg5Gln) variant of F2 (Prothrombin)
R5Q (p.Arg5Gln) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- Ensembl rs758038546
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.56
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.04
- Population evidence available
- Structural context available