H52R (p.His52Arg) variant of PRKCA (Protein kinase C alpha type)
H52R (p.His52Arg) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- ExAC rs768288690
- gnomAD rs768288690
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.86
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available