R42L (p.Arg42Leu) variant of F2 (Prothrombin)
R42L (p.Arg42Leu) in F2 (Prothrombin) is a missense change. 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.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- gnomAD 11-46719747-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.73
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available