R23G (p.Arg23Gly) variant of F8 (Coagulation factor VIII)
R23G (p.Arg23Gly) 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.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- rs1411275972
- gnomAD X-154882105-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 5.29
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available