G30D (p.Gly30Asp) variant of F7 (Coagulation factor VII)
G30D (p.Gly30Asp) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs1440487911
- gnomAD 13-113110717-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.18
- MetaLR 0.44
- MetaSVM -0.71
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available