C133R (p.Cys133Arg) variant of SLC2A1 (P11166)
C133R (p.Cys133Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
C133R (p.Cys133Arg) variant details
- p.Cys133Arg
- rs1643480228
- ClinGen CA339960880
- ClinVar RCV001214425
- Ensembl rs1643480228
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.98
- MetaLR 0.61
- MetaSVM 0.16
- PolyPhen-2 0.61
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available