H32Q (p.His32Gln) variant of PRKCA (Protein kinase C alpha type)
H32Q (p.His32Gln) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H32Q (p.His32Gln) variant details
- p.His32Gln
- ExAC rs749195097
- TOPMed rs749195097
- gnomAD rs749195097
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.87
- SIFT 0.05
- Population evidence available
- Structural context available