Q46H (p.Gln46His) variant of PRKCA (Protein kinase C alpha type)
Q46H (p.Gln46His) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q46H (p.Gln46His) variant details
- p.Gln46His
- gnomAD 17-66302989-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.64
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available