G533D (p.Gly533Asp) variant of SLC6A1 (P30531)
G533D (p.Gly533Asp) 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 0.64 / 1. The record also includes published literature and structural context.
G533D (p.Gly533Asp) variant details
- p.Gly533Asp
- rs1698067782
- ClinGen CA351791995
- ClinVar RCV005063133
- Ensembl rs1698067782
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 1.00
- MetaLR 0.58
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.87
- 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)