V308C (p.Val308Cys) variant of PKP2 (Plakophilin-2)
V308C (p.Val308Cys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
V308C (p.Val308Cys) variant details
- p.Val308Cys
- rs1225845438
- ClinGen CA604480636
- ClinVar RCV002908047
- Pathogenic
- Missense
- 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)