G27R (p.Gly27Arg) variant of F8 (Coagulation factor VIII)
G27R (p.Gly27Arg) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- gnomAD X-154886139-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- MetaLR 0.85
- MetaSVM 0.37
- CADD 4.22
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available