A21E (p.Ala21Glu) variant of F7 (Coagulation factor VII)
A21E (p.Ala21Glu) in F7 (Coagulation factor VII) 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, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 13-113105903-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- MetaLR 0.75
- MetaSVM 0.08
- CADD 19.50
- PolyPhen-2 0.81
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available