S71I (p.Ser71Ile) variant of IDS (Iduronate 2-sulfatase)
S71I (p.Ser71Ile) 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 0.94 / 1. The record also includes published literature and structural context.
S71I (p.Ser71Ile) variant details
- p.Ser71Ile
- rs113993954
- ClinGen CA414527310
- ClinVar RCV001553790
- Ensembl rs113993954
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.88
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: 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)