R86Q (p.Arg86Gln) variant of JUP (Junction plakoglobin)
R86Q (p.Arg86Gln) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs782341732
- ClinGen CA8565535
- NCI-TCGA Cosmic COSV6027
- cosmic curated COSV60278
- Conflicting interpretations
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.33
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; no)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)