R126C (p.Arg126Cys) variant of SLC2A1 (P11166)
R126C (p.Arg126Cys) 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; Hereditary cryohydrocytosis with reduced stomatin; Chro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R126C (p.Arg126Cys) variant details
- p.Arg126Cys
- rs80359818
- ClinGen CA019162
- ClinVar RCV000017498
- ClinVar RCV000030838
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Chro
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Hereditary cryohydrocytosis with reduce)
- EBI: Pathogenic (in GLUT1DS1, GLUT1DS2 and DYT9)
- UniProt: Pathogenic (in GLUT1DS1, GLUT1DS2 and DYT9)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Imaging the metabolic footprint of Glut1 deficiency on the brain. (PMID 12325075)
- Cited in: Paroxysmal movement disorders in GLUT1 deficiency syndrome. (PMID 18606970)