Q46S (p.Gln46Ser) variant of PRKCA (Protein kinase C alpha type)
Q46S (p.Gln46Ser) in PRKCA (Protein kinase C alpha type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q46S (p.Gln46Ser) variant details
- p.Gln46Ser
- gnomAD 17-66302986-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 27.30
- Population evidence available
- Structural context available
- Literature evidence available