C173Y (p.Cys173Tyr) variant of SLC6A1 (P30531)
C173Y (p.Cys173Tyr) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy with myoclonic atonic seizures. The record also includes published literature and structural context.
C173Y (p.Cys173Tyr) variant details
- p.Cys173Tyr
- rs2470203335
- ClinGen CA351789472
- ClinVar RCV003444740
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)