S95I (p.Ser95Ile) variant of SLC2A1 (P11166)
S95I (p.Ser95Ile) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Childhood onset GLUT1 deficiency syndrome 2. The record also includes published literature and structural context.
S95I (p.Ser95Ile) variant details
- p.Ser95Ile
- rs267607060
- ClinGen CA019143
- ClinVar RCV000017496
- UniProt VAR 065208
- Pathogenic
- Childhood onset GLUT1 deficiency syndrome 2
- Missense
- ClinVar: Pathogenic (Childhood onset GLUT1 deficiency syndrome 2)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter… (PMID 18577546)
- Cited in: Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. (PMID 20574033)