S333L (p.Ser333Leu) variant of IDS (Iduronate 2-sulfatase)
S333L (p.Ser333Leu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
S333L (p.Ser333Leu) variant details
- p.Ser333Leu
- rs104894853
- ClinGen CA340987
- ClinVar RCV000011233
- ClinVar RCV000790725
- Pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Detection of point mutations and a gross deletion in six Hunter syndrome patients. (PMID 1639384)
- Cited in: Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the… (PMID 7581397)