F59V (p.Phe59Val) variant of F8 (Coagulation factor VIII)
F59V (p.Phe59Val) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F59V (p.Phe59Val) variant details
- p.Phe59Val
- ExAC rs782187763
- gnomAD rs782187763
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.54
- MetaLR 0.78
- MetaSVM 0.33
- CADD 14.10
- PolyPhen-2 0.03
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available