G17R (p.Gly17Arg) variant of SLC2A1 (P11166)
G17R (p.Gly17Arg) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs1345986424
- ClinGen CA339964863
- ClinVar RCV000733447
- ClinVar RCV001855780
- Pathogenic/Likely pathogenic
- Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.97
- MetaLR 0.59
- MetaSVM -0.04
- PolyPhen-2 0.03
- SIFT 0.22
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)