D269G (p.Asp269Gly) variant of IDS (Iduronate 2-sulfatase)
D269G (p.Asp269Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D269G (p.Asp269Gly) variant details
- p.Asp269Gly
- rs1085308006
- ClinGen CA414521898
- ClinVar RCV002029670
- Ensembl rs1085308006
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Likely pathogenic (in MPS2)
- UniProt: Likely pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)