G167R (p.Gly167Arg) variant of SLC2A1 (P11166)
G167R (p.Gly167Arg) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability; Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
G167R (p.Gly167Arg) variant details
- p.Gly167Arg
- rs773339124
- ClinGen CA339960290
- ClinVar RCV001253375
- ClinVar RCV001255358
- Likely pathogenic
- Intellectual disability; Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 0.92
- PolyPhen-2 0.99
- SIFT 0.17
- EVE 0.65
- ClinVar: Likely pathogenic (Intellectual disability; Encephalopathy due to GLUT1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)