E50G (p.Glu50Gly) variant of F2 (Prothrombin)
E50G (p.Glu50Gly) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- gnomAD 11-46719771-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.94
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available