G111R (p.Gly111Arg) variant of SLC6A1 (P30531)
G111R (p.Gly111Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G111R (p.Gly111Arg) variant details
- p.Gly111Arg
- rs1559622516
- ClinGen CA351788779
- cosmic curated COSV55118
- ClinVar RCV001592884
- Pathogenic/Likely pathogenic
- SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.92
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)