L48F (p.Leu48Phe) variant of F2 (Prothrombin)
L48F (p.Leu48Phe) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- gnomAD 11-46719766-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.53
- CADD 14.50
- PolyPhen-2 0.27
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available