D34Y (p.Asp34Tyr) variant of F8 (Coagulation factor VIII)
D34Y (p.Asp34Tyr) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- gnomAD X-154886145-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- MetaLR 0.85
- MetaSVM 0.52
- CADD 7.48
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available