M98V (p.Met98Val) variant of SLC2A1 (P11166)
M98V (p.Met98Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien. The record also includes structural context.
M98V (p.Met98Val) variant details
- p.Met98Val
- rs2524998366
- ClinGen CA339961394
- ClinVar RCV002653556
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien
- Missense
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available