R333Q (p.Arg333Gln) variant of SLC2A1 (P11166)
R333Q (p.Arg333Gln) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC2A1-related disorder; Encephalopathy due to GLUT1 deficiency; Childhood onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R333Q (p.Arg333Gln) variant details
- p.Arg333Gln
- rs1553155986
- ClinGen CA339956017
- ClinVar RCV000517267
- ClinVar RCV000792856
- Pathogenic/Likely pathogenic
- SLC2A1-related disorder; Encephalopathy due to GLUT1 deficiency; Childhood onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (SLC2A1-related disorder; Encephalopathy due to GLUT1 deficiency;)
- EBI: Pathogenic (in GLUT1DS1 and GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS1 and GLUT1DS2)
- Structural context available
- Cited in: GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. (PMID 19630075)
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)