D3E (p.Asp3Glu) variant of CALM2 (Calmodulin-2)
D3E (p.Asp3Glu) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The record also includes structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- TOPMed rs1463101364
- gnomAD rs1463101364
- Uncertain significance
- Long QT syndrome 1
- Missense
- ClinVar: Uncertain significance (Long QT syndrome 1)
- UniProt: Uncertain significance
- Structural context available