D75V (p.Asp75Val) variant of F8 (Coagulation factor VIII)
D75V (p.Asp75Val) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
D75V (p.Asp75Val) variant details
- p.Asp75Val
- rs1800288
- UniProt VAR 001049
- TOPMed rs1800288
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- Structural context available