W27* (p.Trp27Ter) variant of PRKCH (Protein kinase C eta type)
W27* (p.Trp27Ter) in PRKCH (Protein kinase C eta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
W27* (p.Trp27Ter) variant details
- p.Trp27Ter
- rs1462188418
- gnomAD 14-61327151-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 2.06
- Population evidence available
- Structural context available
- Literature evidence available