G17E (p.Gly17Glu) variant of KCNA2 (P16389)
G17E (p.Gly17Glu) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNA2-related disorder. The record also includes structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- rs2524623847
- ClinGen CA341607306
- ClinVar RCV004552871
- Uncertain significance
- KCNA2-related disorder
- Missense
- ClinVar: Uncertain significance (KCNA2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available