E50K (p.Glu50Lys) variant of F2 (Prothrombin)
E50K (p.Glu50Lys) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- gnomAD 11-46719770-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available