L67P (p.Leu67Pro) variant of IDS (Iduronate 2-sulfatase)
L67P (p.Leu67Pro) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
L67P (p.Leu67Pro) variant details
- p.Leu67Pro
- rs2520901143
- ClinGen CA414527386
- ClinVar RCV003135716
- Conflicting interpretations
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Mucopolysaccharidosis, MPS-II)
- UniProt: Conflicting interpretations
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)