D23E (p.Asp23Glu) variant of JUP (Junction plakoglobin)
D23E (p.Asp23Glu) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- rs2544216840
- ClinGen CA399507118
- ClinVar RCV002364737
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available