S4* (p.Ser4Ter) variant of PKP1 (Plakophilin-1)
S4* (p.Ser4Ter) in PKP1 (Plakophilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- cosmic curated COSV99824
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 39.00
- Population evidence available
- Structural context available