G79R (p.Gly79Arg) variant of SLC6A1 (P30531)
G79R (p.Gly79Arg) 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 0.94 / 1. The record also includes published literature and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- rs1085307804
- ClinGen CA351788472
- ClinVar RCV000489777
- ClinVar RCV003444553
- Pathogenic/Likely pathogenic
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)