G362R (p.Gly362Arg) variant of SLC6A1 (P30531)
G362R (p.Gly362Arg) in SLC6A1 (P30531) is a missense change. The available record places it in the context of Epilepsy with myoclonic atonic seizures; not provided; Neurodevelopmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
G362R (p.Gly362Arg) variant details
- p.Gly362Arg
- rs1131691302
- ClinGen CA351790792
- ClinVar RCV003444379
- ClinGen CA351790791
- not provided
- Epilepsy with myoclonic atonic seizures; not provided; Neurodevelopmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.79
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.79
- ClinVar: not provided (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)