L73F (p.Leu73Phe) variant of IDS (Iduronate 2-sulfatase)
L73F (p.Leu73Phe) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
L73F (p.Leu73Phe) variant details
- p.Leu73Phe
- UniProt VAR 026917
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Molecular analysis in 23 Hunter disease families. (PMID 9266380)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)