E18* (p.Glu18Ter) variant of PRKCH (Protein kinase C eta type)
E18* (p.Glu18Ter) in PRKCH (Protein kinase C eta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- gnomAD 14-61327023-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available