A5S (p.Ala5Ser) variant of F7 (Coagulation factor VII)
A5S (p.Ala5Ser) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 13-113105854-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.12
- MetaLR 0.49
- MetaSVM -0.43
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 0.83
- Population evidence available
- Structural context available
- Literature evidence available