T33I (p.Thr33Ile) variant of IDS (Iduronate 2-sulfatase)
T33I (p.Thr33Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- rs1557340562
- ClinGen CA414528138
- ClinVar RCV003622337
- TOPMed rs1557340562
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.32
- CADD 10.00
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)