K258M (p.Lys258Met) variant of PKP2 (Plakophilin-2)
K258M (p.Lys258Met) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 9. The record also includes structural context.
K258M (p.Lys258Met) variant details
- p.Lys258Met
- NCI-TCGA TCGA novel
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- UniProt: Uncertain significance
- Structural context available