A30T (p.Ala30Thr) variant of JUP (Junction plakoglobin)
A30T (p.Ala30Thr) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- rs782733459
- ClinGen CA8565586
- cosmic curated COSV60277
- ClinVar RCV001044848
- Conflicting interpretations
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.04
- CADD 17.30
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)