R5L (p.Arg5Leu) variant of F2 (Prothrombin)
R5L (p.Arg5Leu) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 11-46719249-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available