E46K (p.Glu46Lys) variant of F10 (Coagulation factor X)
E46K (p.Glu46Lys) in F10 (Coagulation factor X) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- gnomAD 13-113129516-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 27.80
- Population evidence available
- Structural context available
- Literature evidence available