E277G (p.Glu277Gly) variant of GABRA1 (P14867)
E277G (p.Glu277Gly) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized. The record also includes structural context.
E277G (p.Glu277Gly) variant details
- p.Glu277Gly
- rs2532280566
- ClinGen CA362179997
- ClinVar RCV002825122
- Pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- Missense
- ClinVar: Pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available