F270S (p.Phe270Ser) variant of SLC6A1 (P30531)
F270S (p.Phe270Ser) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
F270S (p.Phe270Ser) variant details
- p.Phe270Ser
- rs1553689580
- ClinGen CA351790153
- ClinVar RCV000623778
- ClinVar RCV005056345
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.98
- MetaLR 0.55
- MetaSVM 0.08
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Structural context available
- Cited in: SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport. (PMID 30132828)
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)