F47L (p.Phe47Leu) variant of F2 (Prothrombin)
F47L (p.Phe47Leu) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- gnomAD 11-46719763-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.41
- CADD 11.30
- PolyPhen-2 0.02
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available