K55E (p.Lys55Glu) variant of F8 (Coagulation factor VIII)
K55E (p.Lys55Glu) in F8 (Coagulation factor VIII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K55E (p.Lys55Glu) variant details
- p.Lys55Glu
- gnomAD X-154886137-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.31
- Population evidence available
- Structural context available
- Literature evidence available