C57G (p.Cys57Gly) variant of SLC6A1 (P30531)
C57G (p.Cys57Gly) 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 0.63 / 1. The record also includes published literature and structural context.
C57G (p.Cys57Gly) variant details
- p.Cys57Gly
- rs1697196424
- ClinGen CA351788327
- ClinVar RCV005057134
- Ensembl rs1697196424
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.83
- MetaLR 0.63
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- 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)