E45K (p.Glu45Lys) variant of JUP (Junction plakoglobin)
E45K (p.Glu45Lys) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs1916677301
- ClinGen CA399506861
- ClinVar RCV003790069
- gnomAD rs1916677301
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.11
- CADD 22.40
- 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)