A47T (p.Ala47Thr) variant of F8 (Coagulation factor VIII)
A47T (p.Ala47Thr) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- ESP rs368563092
- ExAC rs368563092
- TOPMed rs368563092
- gnomAD rs368563092
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.32
- MetaLR 0.69
- MetaSVM 0.08
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available