S459R (p.Ser459Arg) variant of SLC6A1 (P30531)
S459R (p.Ser459Arg) 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 0.66 / 1. The record also includes published literature and structural context.
S459R (p.Ser459Arg) variant details
- p.Ser459Arg
- rs1064795099
- ClinGen CA16617801
- ClinVar RCV000487237
- ClinVar RCV000850413
- Pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 1.00
- MetaLR 0.59
- MetaSVM 0.28
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)