R23C (p.Arg23Cys) variant of F8 (Coagulation factor VIII)
R23C (p.Arg23Cys) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- rs1192249515
- gnomAD X-154882114-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0649
- CADD 3.45
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available