P97T (p.Pro97Thr) variant of IDS (Iduronate 2-sulfatase)
P97T (p.Pro97Thr) 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 not provided; Mucopolysaccharidosis, MPS-II; Inborn genetic diseases. 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.
P97T (p.Pro97Thr) variant details
- p.Pro97Thr
- rs1557340273
- ClinGen CA414526622
- ClinVar RCV001887738
- ClinVar RCV003375375
- Uncertain significance
- not provided; Mucopolysaccharidosis, MPS-II; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.95
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Mucopolysaccharidosis, MPS-II; Inborn genetic dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)