R86W (p.Arg86Trp) variant of JUP (Junction plakoglobin)
R86W (p.Arg86Trp) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- rs782240305
- ClinGen CA8565536
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10015
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.52
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)