Y103D (p.Tyr103Asp) variant of IDS (Iduronate 2-sulfatase)
Y103D (p.Tyr103Asp) 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 0.88 / 1. The record also includes published literature and structural context.
Y103D (p.Tyr103Asp) variant details
- p.Tyr103Asp
- rs2089496667
- ClinGen CA414526498
- ClinVar RCV001290998
- Ensembl rs2089496667
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)