C12R (p.Cys12Arg) variant of F2 (Prothrombin)
C12R (p.Cys12Arg) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- ExAC rs753169407
- gnomAD rs753169407
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.63
- CADD 25.20
- PolyPhen-2 0.59
- SIFT 0.02
- Population evidence available
- Structural context available