G297R (p.Gly297Arg) variant of SLC6A1 (P30531)
G297R (p.Gly297Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
G297R (p.Gly297Arg) variant details
- p.Gly297Arg
- rs876657400
- ClinGen CA10575721
- ClinVar RCV001268638
- ClinVar RCV003444213
- Pathogenic/Likely pathogenic
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.63
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Structural context available
- Cited in: Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. (PMID 25865495)
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)