G75E (p.Gly75Glu) variant of SLC6A1 (P30531)
G75E (p.Gly75Glu) 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 0.53 / 1. The record also includes published literature and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- rs2124905654
- ClinGen CA351788449
- cosmic curated COSV10728
- ClinVar RCV005057917
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.98
- MetaLR 0.56
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.21
- 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)