V39D (p.Val39Asp) variant of IDS (Iduronate 2-sulfatase)
V39D (p.Val39Asp) 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.
V39D (p.Val39Asp) variant details
- p.Val39Asp
- rs2520902410
- ClinGen CA414527906
- ClinVar RCV003131209
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)