D12E (p.Asp12Glu) variant of SCN1A (Nav1.1)
D12E (p.Asp12Glu) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- TOPMed rs911813526
- gnomAD rs911813526
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available