T78A (p.Thr78Ala) variant of JUP (Junction plakoglobin)
T78A (p.Thr78Ala) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T78A (p.Thr78Ala) variant details
- p.Thr78Ala
- rs1916308035
- ClinGen CA399506016
- ClinVar RCV001060226
- TOPMed rs1916308035
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.15
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)