W123* (p.Trp123Ter) variant of PKP2 (Plakophilin-2)
W123* (p.Trp123Ter) in PKP2 (Plakophilin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W123* (p.Trp123Ter) variant details
- p.Trp123Ter
- rs760576804
- ClinGen CA012280
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.835
- CADD 36.00
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)