D46N (p.Asp46Asn) variant of JUP (Junction plakoglobin)
D46N (p.Asp46Asn) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs782308879
- ClinGen CA8565577
- ClinVar RCV000817995
- ExAC rs782308879
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)