W290* (p.Trp290Ter) variant of PKP2 (Plakophilin-2)
W290* (p.Trp290Ter) in PKP2 (Plakophilin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W290* (p.Trp290Ter) variant details
- p.Trp290Ter
- rs2541339186
- ClinGen CA384362132
- ClinVar RCV003508859
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)