A88G (p.Ala88Gly) variant of JUP (Junction plakoglobin)
A88G (p.Ala88Gly) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A88G (p.Ala88Gly) variant details
- p.Ala88Gly
- ESP rs137891946
- ExAC rs137891946
- TOPMed rs137891946
- gnomAD rs137891946
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.32
- CADD 25.20
- PolyPhen-2 0.18
- SIFT 0.05
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available