E31A (p.Glu31Ala) variant of F7 (Coagulation factor VII)
E31A (p.Glu31Ala) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E31A (p.Glu31Ala) variant details
- p.Glu31Ala
- gnomAD 13-113110705-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.31
- MetaLR 0.70
- MetaSVM 0.01
- CADD 23.20
- PolyPhen-2 0.64
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available