Y71* (p.Tyr71Ter) variant of PKP1 (Plakophilin-1)
Y71* (p.Tyr71Ter) in PKP1 (Plakophilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Y71* (p.Tyr71Ter) variant details
- p.Tyr71Ter
- gnomAD 1-201293952-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available