G53E (p.Gly53Glu) variant of ELN (Elastin)
G53E (p.Gly53Glu) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Supravalvar aortic stenosis. The record also includes structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs2484850492
- ClinGen CA367868957
- ClinVar RCV002805250
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available