S456C (p.Ser456Cys) variant of SLC6A1 (P30531)
S456C (p.Ser456Cys) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
S456C (p.Ser456Cys) variant details
- p.Ser456Cys
- rs1697893468
- ClinGen CA351791438
- cosmic curated COSV55120
- ClinVar RCV002266366
- Conflicting interpretations
- not specified; Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.96
- MetaLR 0.73
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Conflicting classifications of pathogenicity (not specified; Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)