E56V (p.Glu56Val) variant of F10 (Coagulation factor X)
E56V (p.Glu56Val) in F10 (Coagulation factor X) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E56V (p.Glu56Val) variant details
- p.Glu56Val
- rs749213415
- gnomAD 13-113129541-GAA-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available