D46Y (p.Asp46Tyr) variant of JUP (Junction plakoglobin)
D46Y (p.Asp46Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D46Y (p.Asp46Tyr) variant details
- p.Asp46Tyr
- rs782308879
- ClinGen CA399506845
- cosmic curated COSV10015
- ClinVar RCV002644063
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.21
- CADD 24.60
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)