E50D (p.Glu50Asp) variant of F2 (Prothrombin)
E50D (p.Glu50Asp) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- gnomAD 11-46719772-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.77
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available