C499R (p.Cys499Arg) variant of SLC6A1 (P30531)
C499R (p.Cys499Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
C499R (p.Cys499Arg) variant details
- p.Cys499Arg
- rs2124942597
- ClinGen CA351791749
- ClinVar RCV005057769
- Ensembl rs2124942597
- Pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.74
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)