C796R (p.Cys796Arg) variant of PKP2 (Plakophilin-2)
C796R (p.Cys796Arg) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
C796R (p.Cys796Arg) variant details
- p.Cys796Arg
- rs794729098
- ClinGen CA011986
- ClinVar RCV000183710
- ClinVar RCV000456556
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 1.00
- MetaLR 0.30
- MetaSVM -0.35
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Pathogenic (in ARVD9)
- UniProt: Pathogenic (in ARVD9)
- Structural context available
- Cited in: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (PMID 15489853)
- Cited in: Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. (PMID 22781308)