E329Q (p.Glu329Gln) variant of SLC2A1 (P11166)
E329Q (p.Glu329Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E329Q (p.Glu329Gln) variant details
- p.Glu329Gln
- rs2124448063
- ClinGen CA339956096
- ClinVar RCV002634287
- UniProt VAR 065220
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.79
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)
- Cited in: Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. (PMID 10227690)