T54M (p.Thr54Met) variant of JUP (Junction plakoglobin)
T54M (p.Thr54Met) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T54M (p.Thr54Met) variant details
- p.Thr54Met
- rs782529328
- ClinGen CA8565569
- ClinVar RCV000414243
- ClinVar RCV001124953
- Uncertain significance
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.11
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)