E107G (p.Glu107Gly) variant of JUP (Junction plakoglobin)
E107G (p.Glu107Gly) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
E107G (p.Glu107Gly) variant details
- p.Glu107Gly
- gnomAD rs1555605850
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.20
- CADD 25.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available