K55K (p.Lys55Lys) variant of F8 (Coagulation factor VIII)
K55K (p.Lys55Lys) in F8 (Coagulation factor VIII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K55K (p.Lys55Lys) variant details
- p.Lys55Lys
- rs2072892766
- gnomAD X-154886134-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 8.13
- Population evidence available
- Structural context available
- Literature evidence available