A9M (p.Ala9Met) variant of IDUA (Alpha-L-iduronidase)
A9M (p.Ala9Met) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The record also includes published literature and structural context.
A9M (p.Ala9Met) variant details
- p.Ala9Met
- rs2534003285
- ClinGen CA2580071751
- ClinVar RCV003100172
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)