H52N (p.His52Asn) variant of PRKCB (Protein kinase C beta type)
H52N (p.His52Asn) in PRKCB (Protein kinase C beta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H52N (p.His52Asn) variant details
- p.His52Asn
- gnomAD 16-23836329-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available