G92D (p.Gly92Asp) variant of JUP (Junction plakoglobin)
G92D (p.Gly92Asp) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe. 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.
G92D (p.Gly92Asp) variant details
- p.Gly92Asp
- rs782737074
- ClinGen CA8565526
- ClinVar RCV000536647
- ClinVar RCV002289763
- Conflicting interpretations
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.24
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)