D334G (p.Asp334Gly) variant of IDS (Iduronate 2-sulfatase)
D334G (p.Asp334Gly) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D334G (p.Asp334Gly) variant details
- p.Asp334Gly
- rs2089378583
- ClinGen CA414519840
- ClinVar RCV001057510
- UniProt VAR 009002
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism… (PMID 8830188)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)