R153C (p.Arg153Cys) variant of SLC2A1 (P11166)
R153C (p.Arg153Cys) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R153C (p.Arg153Cys) variant details
- p.Arg153Cys
- rs1643479461
- ClinGen CA339960556
- ClinVar RCV001390268
- ClinVar RCV005867010
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.88
- AlphaMissense 0.97
- MetaLR 0.84
- MetaSVM 0.95
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onse)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Imaging the metabolic footprint of Glut1 deficiency on the brain. (PMID 12325075)
- Cited in: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. (PMID 15622525)