G130A (p.Gly130Ala) variant of SLC2A1 (P11166)
G130A (p.Gly130Ala) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The record also includes structural context.
G130A (p.Gly130Ala) variant details
- p.Gly130Ala
- rs2524997940
- ClinGen CA339960916
- ClinVar RCV003631925
- Likely pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- ClinVar: Likely pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Likely pathogenic (in GLUT1DS1)
- UniProt: Likely pathogenic (in GLUT1DS1)
- Structural context available