G130S (p.Gly130Ser) variant of SLC2A1 (P11166)
G130S (p.Gly130Ser) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive; GLUT1 deficiency syndrome; Enc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G130S (p.Gly130Ser) variant details
- p.Gly130Ser
- rs80359819
- ClinGen CA21252051
- ClinVar RCV000770978
- ClinVar RCV001869075
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive; GLUT1 deficiency syndrome; Enc
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.05
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive; GLUT1 deficien)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Population evidence available
- Structural context available
- Cited in: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. (PMID 15622525)
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)