G75W (p.Gly75Trp) variant of SLC6A1 (P30531)
G75W (p.Gly75Trp) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Epilepsy with myoclonic atonic seizures. The record also includes structural context.
G75W (p.Gly75Trp) variant details
- p.Gly75Trp
- cosmic curated COSV99822
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures)
- UniProt: Likely pathogenic
- Structural context available