L63V (p.Leu63Val) variant of DSC2 (Desmocollin-2)
L63V (p.Leu63Val) in DSC2 (Desmocollin-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 11. The record also includes structural context.
L63V (p.Leu63Val) variant details
- p.Leu63Val
- Ensembl rs1987628241
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available