R147* (p.Arg147Ter) variant of PKP2 (Plakophilin-2)
R147* (p.Arg147Ter) 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 0.45 / 1. The record also includes population frequency data and structural context.
R147* (p.Arg147Ter) variant details
- p.Arg147Ter
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available