R43G (p.Arg43Gly) variant of F2 (Prothrombin)
R43G (p.Arg43Gly) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- gnomAD 11-46719749-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.78
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available