E49D (p.Glu49Asp) variant of F2 (Prothrombin)
E49D (p.Glu49Asp) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- TOPMed rs1447320783
- gnomAD rs1447320783
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.75
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available