G92C (p.Gly92Cys) variant of JUP (Junction plakoglobin)
G92C (p.Gly92Cys) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G92C (p.Gly92Cys) variant details
- p.Gly92Cys
- rs781875765
- ClinGen CA8565527
- ClinVar RCV000524047
- ClinVar RCV000617807
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.24
- CADD 25.10
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)