V27L (p.Val27Leu) variant of F2 (Prothrombin)
V27L (p.Val27Leu) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V27L (p.Val27Leu) variant details
- p.Val27Leu
- gnomAD 11-46719314-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.78
- CADD 35.00
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available