L228P (p.Leu228Pro) variant of SLC2A1 (P11166)
L228P (p.Leu228Pro) 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 record also includes structural context.
L228P (p.Leu228Pro) variant details
- p.Leu228Pro
- rs2524992866
- ClinGen CA339958332
- ClinVar RCV003517010
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available