A188D (p.Ala188Asp) variant of GABRA1 (P14867)
A188D (p.Ala188Asp) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized. The record also includes structural context.
A188D (p.Ala188Asp) variant details
- p.Ala188Asp
- rs2532261654
- ClinGen CA362179395
- ClinVar RCV003032298
- Likely pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- Missense
- ClinVar: Likely pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available