R93W (p.Arg93Trp) variant of SLC2A1 (P11166)
R93W (p.Arg93Trp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SLC2A1-related disorder; GLUT1 deficiency syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R93W (p.Arg93Trp) variant details
- p.Arg93Trp
- rs267607061
- ClinGen CA019133
- ClinVar RCV000030922
- ClinVar RCV000442654
- Pathogenic
- SLC2A1-related disorder; GLUT1 deficiency syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.74
- CADD 29.70
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic (SLC2A1-related disorder; GLUT1 deficiency syndrome; Inborn genet)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: GLUT1 deficiency without epilepsy: yet another case. (PMID 18403583)
- Cited in: Glut1 deficiency and alternating hemiplegia of childhood. (PMID 19996082)