G30S (p.Gly30Ser) variant of F7 (Coagulation factor VII)
G30S (p.Gly30Ser) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs1330001431
- gnomAD 13-113110716-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.14
- MetaLR 0.35
- MetaSVM -0.64
- CADD 0.07
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available