H3D (p.His3Asp) variant of F2 (Prothrombin)
H3D (p.His3Asp) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H3D (p.His3Asp) variant details
- p.His3Asp
- ExAC rs773112047
- gnomAD rs773112047
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.01
- Population evidence available
- Structural context available