D46Y (p.Asp46Tyr) variant of IDS (Iduronate 2-sulfatase)
D46Y (p.Asp46Tyr) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D46Y (p.Asp46Tyr) variant details
- p.Asp46Tyr
- rs2089504816
- ClinGen CA414527779
- ClinVar RCV001290992
- Ensembl rs2089504816
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.99
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.85
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)