K55R (p.Lys55Arg) variant of F8 (Coagulation factor VIII)
K55R (p.Lys55Arg) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K55R (p.Lys55Arg) variant details
- p.Lys55Arg
- rs2072867822
- gnomAD X-154882086-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 5.82
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available