M76R (p.Met76Arg) variant of JUP (Junction plakoglobin)
M76R (p.Met76Arg) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe. 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.
M76R (p.Met76Arg) variant details
- p.Met76Arg
- rs782144363
- ClinVar RCV004991902
- ClinVar RCV006565708
- ExAC rs782144363
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)