H50fsX variant of GCK (Hexokinase-4)
For H50fsX in GCK (Hexokinase-4), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
H50fsX variant details
- rs886041690
- Pathogenic
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available