R51H (p.Arg51His) variant of JUP (Junction plakoglobin)
R51H (p.Arg51His) 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; Naxos disease; Arrhythmogenic right ventricular dyspla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- rs571707598
- ClinGen CA8565572
- ClinVar RCV001034968
- ClinVar RCV005648074
- Uncertain significance
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.12
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SURUI population (allele frequency 0.14)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)