S71N (p.Ser71Asn) variant of IDS (Iduronate 2-sulfatase)
S71N (p.Ser71Asn) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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.
S71N (p.Ser71Asn) variant details
- p.Ser71Asn
- rs113993954
- ClinGen CA337036723
- cosmic curated COSV61714
- ClinVar RCV001912365
- Pathogenic/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: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. (PMID 9660053)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)