A357E (p.Ala357Glu) variant of SLC6A1 (P30531)
A357E (p.Ala357Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A357E (p.Ala357Glu) variant details
- p.Ala357Glu
- rs1553689859
- ClinGen CA351790752
- ClinVar RCV003444921
- Ensembl rs1553689859
- Likely pathogenic
- SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.92
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)