I45T (p.Ile45Thr) variant of GABRA1 (P14867)
I45T (p.Ile45Thr) 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. The record also includes structural context.
I45T (p.Ile45Thr) variant details
- p.Ile45Thr
- rs2532204989
- ClinGen CA362181574
- ClinVar RCV002466325
- Likely pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13
- Missense
- ClinVar: Likely pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available