P44T (p.Pro44Thr) variant of F8 (Coagulation factor VIII)
P44T (p.Pro44Thr) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P44T (p.Pro44Thr) variant details
- p.Pro44Thr
- gnomAD X-154886142-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.78
- MetaSVM 0.12
- CADD 4.41
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available