E101A (p.Glu101Ala) variant of SLC6A1 (P30531)
E101A (p.Glu101Ala) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy with myoclonic atonic seizures. The record also includes published literature and structural context.
E101A (p.Glu101Ala) variant details
- p.Glu101Ala
- rs2470191807
- ClinGen CA351788668
- ClinVar RCV005059069
- Pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)