A103G (p.Ala103Gly) variant of JUP (Junction plakoglobin)
A103G (p.Ala103Gly) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
A103G (p.Ala103Gly) variant details
- p.Ala103Gly
- rs2143695852
- ClinGen CA399505537
- ClinVar RCV001890782
- Ensembl rs2143695852
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.89
- PolyPhen-2 0.03
- SIFT 0.04
- EVE 0.16
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)