Y34H (p.Tyr34His) variant of GALT (P07902)
Y34H (p.Tyr34His) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GALAC1. The record also includes structural context.
Y34H (p.Tyr34His) variant details
- p.Tyr34His
- TOPMed rs111033836
- Pathogenic
- in GALAC1
- Missense
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available