A17G (p.Ala17Gly) variant of F2 (Prothrombin)
A17G (p.Ala17Gly) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- gnomAD 11-46719285-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.30
- CADD 8.93
- PolyPhen-2 0.16
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available