R84G (p.Arg84Gly) variant of JUP (Junction plakoglobin)
R84G (p.Arg84Gly) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R84G (p.Arg84Gly) variant details
- p.Arg84Gly
- rs782306414
- ClinGen CA399505898
- ClinVar RCV001909161
- ClinVar RCV003167082
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.31
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)