S203C (p.Ser203Cys) variant of PKP2 (Plakophilin-2)
S203C (p.Ser203Cys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy. The record also includes published literature and structural context.
S203C (p.Ser203Cys) variant details
- p.Ser203Cys
- rs2541341038
- ClinGen CA384364079
- ClinVar RCV004015133
- ClinVar RCV006551090
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)