E45D (p.Glu45Asp) variant of JUP (Junction plakoglobin)
E45D (p.Glu45Asp) 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 0.29 / 1. The record also includes published literature and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- rs2143735253
- ClinGen CA399506850
- ClinVar RCV001364755
- ClinVar RCV005582736
- Conflicting interpretations
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.05
- MetaLR 0.04
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.87
- EVE 0.10
- ClinVar: Conflicting classifications of pathogenicity (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)