R51C (p.Arg51Cys) variant of JUP (Junction plakoglobin)
R51C (p.Arg51Cys) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- rs782254006
- ClinGen CA8565573
- cosmic curated COSV60279
- ClinVar RCV001170587
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- CADD 22.20
- PolyPhen-2 0.18
- SIFT 0.06
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)