H52N (p.His52Asn) variant of PRKCA (Protein kinase C alpha type)
H52N (p.His52Asn) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
H52N (p.His52Asn) variant details
- p.His52Asn
- gnomAD rs1332665914
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.74
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available