R23H (p.Arg23His) variant of F8 (Coagulation factor VIII)
R23H (p.Arg23His) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R23H (p.Arg23His) variant details
- p.Arg23His
- rs1254345475
- gnomAD X-154882113-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- CADD 3.59
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available