G91D (p.Gly91Asp) variant of SLC2A1 (P11166)
G91D (p.Gly91Asp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G91D (p.Gly91Asp) variant details
- p.Gly91Asp
- rs80359814
- ClinGen CA019112
- ClinVar RCV000017490
- UniProt VAR 013182
- Pathogenic
- Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Encephalopathy due to GLUT1 deficiency)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Autosomal dominant transmission of GLUT1 deficiency. (PMID 11136715)
- Cited in: Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene. (PMID 11389907)