Q66H (p.Gln66His) variant of PRKCA (Protein kinase C alpha type)
Q66H (p.Gln66His) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Q66H (p.Gln66His) variant details
- p.Gln66His
- gnomAD 17-66306120-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.84
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available