S331G (p.Ser331Gly) variant of SLC6A1 (P30531)
S331G (p.Ser331Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
S331G (p.Ser331Gly) variant details
- p.Ser331Gly
- rs2124926212
- ClinGen CA351790579
- ClinVar RCV005057618
- Ensembl rs2124926212
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.92
- MetaLR 0.73
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- 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)