T19I (p.Thr19Ile) variant of JUP (Junction plakoglobin)
T19I (p.Thr19Ile) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- rs570878629
- ClinGen CA185075
- cosmic curated COSV10015
- ClinVar RCV000156554
- Conflicting interpretations
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.20
- CADD 24.80
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Benign (in ARVD12)
- UniProt: Benign (in ARVD12)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular… (PMID 20031617)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)