E14Q (p.Glu14Gln) variant of PRKCB (Protein kinase C beta type)
E14Q (p.Glu14Gln) in PRKCB (Protein kinase C beta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD 16-23836215-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available