R84W (p.Arg84Trp) variant of JUP (Junction plakoglobin)
R84W (p.Arg84Trp) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of JUP-related disorder; Arrhythmogenic right ventricular dysplasia 12; Naxos disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R84W (p.Arg84Trp) variant details
- p.Arg84Trp
- rs782306414
- ClinGen CA8565540
- ClinVar RCV001340193
- ClinVar RCV003416231
- Uncertain significance
- JUP-related disorder; Arrhythmogenic right ventricular dysplasia 12; Naxos disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (JUP-related disorder; Arrhythmogenic right ventricular dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)