D71E (p.Asp71Glu) variant of JUP (Junction plakoglobin)
D71E (p.Asp71Glu) 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 0.16 / 1. The record also includes population frequency data and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- 1000Genomes rs7405731
- ESP rs7405731
- ExAC rs7405731
- TOPMed rs7405731
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.03
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available