L14R (p.Leu14Arg) variant of DSC2 (Desmocollin-2)
L14R (p.Leu14Arg) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial isolated arrhythmogenic right ventricular dysplasia. The record also includes structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- rs2510964017
- ClinGen CA402115254
- ClinVar RCV004012219
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia
- Missense
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available