R84Q (p.Arg84Gln) variant of JUP (Junction plakoglobin)
R84Q (p.Arg84Gln) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Naxos disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- rs782061304
- ClinGen CA8565539
- NCI-TCGA Cosmic COSV6027
- cosmic curated COSV60278
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.26
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)