C57Y (p.Cys57Tyr) variant of SLC6A1 (P30531)
C57Y (p.Cys57Tyr) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
C57Y (p.Cys57Tyr) variant details
- p.Cys57Tyr
- rs2124905489
- ClinGen CA351788330
- ClinVar RCV005057718
- Ensembl rs2124905489
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)