G50R (p.Gly50Arg) variant of JUP (Junction plakoglobin)
G50R (p.Gly50Arg) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs374008304
- ClinGen CA8565574
- cosmic curated COSV60278
- ClinVar RCV000822515
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.35
- 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 0.00013)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)