A30G (p.Ala30Gly) variant of F2 (Prothrombin)
A30G (p.Ala30Gly) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- gnomAD 11-46719711-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.25
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available