A23G (p.Ala23Gly) variant of DSC2 (Desmocollin-2)
A23G (p.Ala23Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- rs1478050070
- ClinGen CA402115205
- ClinVar RCV003994632
- Uncertain significance
- Familial isolated arrhythmogenic right ventricular dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.12
- MetaLR 0.08
- MetaSVM -1.07
- PolyPhen-2 0.01
- SIFT 0.63
- EVE 0.12
- ClinVar: Uncertain significance (Familial isolated arrhythmogenic right ventricular dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available