G124S (p.Gly124Ser) variant of SLC6A1 (P30531)
G124S (p.Gly124Ser) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G124S (p.Gly124Ser) variant details
- p.Gly124Ser
- rs2124907082
- ClinGen CA351788918
- ClinVar RCV005057839
- Ensembl rs2124907082
- Pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.90
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)