G533R (p.Gly533Arg) variant of SLC6A1 (P30531)
G533R (p.Gly533Arg) 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 0.73 / 1. The record also includes published literature and structural context.
G533R (p.Gly533Arg) variant details
- p.Gly533Arg
- rs1698067665
- ClinGen CA351791993
- ClinVar RCV003233930
- ClinVar RCV005056809
- Pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)