S294T (p.Ser294Thr) variant of PKP2 (Plakophilin-2)
S294T (p.Ser294Thr) 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 cardiomyopathy. The record also includes published literature and structural context.
S294T (p.Ser294Thr) variant details
- p.Ser294Thr
- rs2541339152
- ClinGen CA384362106
- ClinVar RCV004016983
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- ClinVar: Uncertain significance (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)