R126L (p.Arg126Leu) variant of SLC2A1 (P11166)
R126L (p.Arg126Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.94 / 1. The record also includes published literature and structural context.
R126L (p.Arg126Leu) variant details
- p.Arg126Leu
- rs80359816
- ClinGen CA019172
- ClinVar RCV000017489
- ClinVar RCV002271987
- Pathogenic
- Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Chro
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.93
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. (PMID 10980529)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)