S152N (p.Ser152Asn) variant of IDS (Iduronate 2-sulfatase)
S152N (p.Ser152Asn) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S152N (p.Ser152Asn) variant details
- p.Ser152Asn
- rs193302914
- ClinGen CA414523145
- ClinVar RCV001563681
- Ensembl rs193302914
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.90
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- 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)