K37A (p.Lys37Ala) variant of SLC6A1 (P30531)
K37A (p.Lys37Ala) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Epilepsy with myoclonic atonic seizures. The record also includes published literature and structural context.
K37A (p.Lys37Ala) variant details
- p.Lys37Ala
- rs1697191777
- ClinGen CA1345477917
- ClinVar RCV005057301
- Ensembl rs1697191777
- Likely benign
- Epilepsy with myoclonic atonic seizures
- Missense
- ClinVar: Likely benign (Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)