A80T (p.Ala80Thr) variant of JUP (Junction plakoglobin)
A80T (p.Ala80Thr) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Naxos disease; Arrhythmogenic right ventricular dysplasia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- rs575015278
- ClinGen CA290700938
- ClinVar RCV002932907
- ClinVar RCV004067049
- Uncertain significance
- not specified; Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.09
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; Naxos disease; Arrhythmogenic right ventricular d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)