R22C (p.Arg22Cys) variant of PRKCA (Protein kinase C alpha type)
R22C (p.Arg22Cys) in PRKCA (Protein kinase C alpha type) 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, published literature, and structural context.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- gnomAD 17-66302915-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available