Y12* (p.Tyr12Ter) variant of PKP1 (Plakophilin-1)
Y12* (p.Tyr12Ter) in PKP1 (Plakophilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y12* (p.Tyr12Ter) variant details
- p.Tyr12Ter
- gnomAD 1-201283738-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available