A305V (p.Ala305Val) variant of SLC6A1 (P30531)
A305V (p.Ala305Val) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures. The record also includes published literature and structural context.
A305V (p.Ala305Val) variant details
- p.Ala305Val
- rs2470224623
- ClinGen CA351790393
- ClinVar RCV005059118
- Conflicting interpretations
- SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures
- Missense
- ClinVar: Conflicting classifications of pathogenicity (SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)