G550R (p.Gly550Arg) variant of SLC6A1 (P30531)
G550R (p.Gly550Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy with myoclonic atonic seizures; not provided; Global developmental dela. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G550R (p.Gly550Arg) variant details
- p.Gly550Arg
- rs886042046
- ClinGen CA10602860
- ClinVar RCV000286162
- ClinVar RCV001007935
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; not provided; Global developmental dela
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM 0.13
- PolyPhen-2 0.92
- SIFT 0.30
- MutPred 0.90
- ClinVar: Conflicting classifications of pathogenicity (not provided; Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport. (PMID 30132828)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)