A205T (p.Ala205Thr) variant of PKP2 (Plakophilin-2)
A205T (p.Ala205Thr) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular c. The record also includes published literature and structural context.
A205T (p.Ala205Thr) variant details
- p.Ala205Thr
- rs2541340967
- ClinGen CA384364039
- ClinVar RCV002632504
- ClinVar RCV004009467
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular c
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic rig)
- 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)