R333W (p.Arg333Trp) variant of SLC2A1 (P11166)
R333W (p.Arg333Trp) 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; GLUT1 deficiency syndrome; Dystonia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R333W (p.Arg333Trp) variant details
- p.Arg333Trp
- rs80359825
- ClinGen CA019390
- ClinVar RCV000180300
- ClinVar RCV000500584
- Pathogenic/Likely pathogenic
- SLC2A1-related disorder; GLUT1 deficiency syndrome; Dystonia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (SLC2A1-related disorder; GLUT1 deficiency syndrome; Dystonia 9)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. (PMID 10980529)
- Cited in: Imaging the metabolic footprint of Glut1 deficiency on the brain. (PMID 12325075)