E14* (p.Glu14Ter) variant of PRKCB (Protein kinase C beta type)
E14* (p.Glu14Ter) in PRKCB (Protein kinase C beta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- gnomAD 16-23836215-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available