G92A (p.Gly92Ala) variant of JUP (Junction plakoglobin)
G92A (p.Gly92Ala) 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 0.38 / 1. The record also includes population frequency data and structural context.
G92A (p.Gly92Ala) variant details
- p.Gly92Ala
- ExAC rs782737074
- TOPMed rs782737074
- gnomAD rs782737074
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.15
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available