A82T (p.Ala82Thr) variant of JUP (Junction plakoglobin)
A82T (p.Ala82Thr) 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.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- TOPMed rs1555605963
- gnomAD rs1555605963
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.20
- SIFT 0.25
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available