G134S (p.Gly134Ser) variant of SLC2A1 (P11166)
G134S (p.Gly134Ser) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Paroxysmal dystonia; Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G134S (p.Gly134Ser) variant details
- p.Gly134Ser
- rs1057518953
- ClinGen CA16043369
- ClinVar RCV000415325
- ClinVar RCV000458446
- Pathogenic/Likely pathogenic
- not provided; Paroxysmal dystonia; Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (not provided; Paroxysmal dystonia; Encephalopathy due to GLUT1 d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)