C17S (p.Cys17Ser) variant of F8 (Coagulation factor VIII)
C17S (p.Cys17Ser) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C17S (p.Cys17Ser) variant details
- p.Cys17Ser
- TOPMed rs1557287600
- gnomAD rs1557287600
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.40
- MetaLR 0.80
- MetaSVM 0.09
- CADD 6.96
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available