M7I (p.Met7Ile) variant of JUP (Junction plakoglobin)
M7I (p.Met7Ile) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Arrhythmogenic right ventricular dysplasia 12; Naxos disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
M7I (p.Met7Ile) variant details
- p.Met7Ile
- rs782076076
- ClinGen CA399507335
- ClinVar RCV001241769
- ExAC rs782076076
- Uncertain significance
- not provided; Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0421
- REVEL 0.03
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided; Arrhythmogenic right ventricular dysplasia 12; Nax)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)