I485T (p.Ile485Thr) variant of IDS (Iduronate 2-sulfatase)
I485T (p.Ile485Thr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I485T (p.Ile485Thr) variant details
- p.Ile485Thr
- rs782430567
- ClinGen CA10537443
- ClinVar RCV003985699
- ExAC rs782430567
- Conflicting interpretations
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.94
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Mucopolysaccharidosis, MPS-II)
- EBI: Likely pathogenic (in MPS2)
- UniProt: Likely pathogenic (in MPS2)
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)