H29Y (p.His29Tyr) variant of GALT (P07902)
H29Y (p.His29Tyr) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GALT-related disorder. The record also includes structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- rs2492861309
- ClinGen CA373278461
- ClinVar RCV003404651
- Uncertain significance
- GALT-related disorder
- Missense
- ClinVar: Uncertain significance (GALT-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available