T118S (p.Thr118Ser) variant of IDS (Iduronate 2-sulfatase)
T118S (p.Thr118Ser) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T118S (p.Thr118Ser) variant details
- p.Thr118Ser
- rs2089496220
- ClinGen CA414526091
- ClinVar RCV001923583
- ClinVar RCV004616878
- Uncertain significance
- Mucopolysaccharidosis, MPS-II; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.85
- CADD 23.70
- PolyPhen-2 0.82
- SIFT 0.06
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II; Inborn genetic diseases)
- EBI: Variant of uncertain significance (in MPS2)
- UniProt: Uncertain significance (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)