Y217* (p.Tyr217Ter) variant of PKP2 (Plakophilin-2)
Y217* (p.Tyr217Ter) in PKP2 (Plakophilin-2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y217* (p.Tyr217Ter) variant details
- p.Tyr217Ter
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50736
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 33.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available