S152R (p.Ser152Arg) variant of IDS (Iduronate 2-sulfatase)
S152R (p.Ser152Arg) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S152R (p.Ser152Arg) variant details
- p.Ser152Arg
- Ensembl rs1803782
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.89
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available