R126H (p.Arg126His) variant of SLC2A1 (P11166)
R126H (p.Arg126His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; GLUT1 deficiency syndrome 1, autosomal re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R126H (p.Arg126His) variant details
- p.Arg126His
- rs80359816
- ClinGen CA019167
- ClinVar RCV000017491
- ClinVar RCV000081432
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; GLUT1 deficiency syndrome 1, autosomal re
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- AlphaMissense 0.93
- MetaLR 0.93
- MetaSVM 1.10
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; GLUT1 deficiency syndrome)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. (PMID 11603379)
- Cited in: Imaging the metabolic footprint of Glut1 deficiency on the brain. (PMID 12325075)