M76I (p.Met76Ile) variant of JUP (Junction plakoglobin)
M76I (p.Met76Ile) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
M76I (p.Met76Ile) variant details
- p.Met76Ile
- rs202091411
- ClinGen CA8565544
- ClinVar RCV001923502
- ClinVar RCV004043556
- Conflicting interpretations
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)