I42V (p.Ile42Val) variant of IDS (Iduronate 2-sulfatase)
I42V (p.Ile42Val) 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 0.63 / 1. The record also includes published literature and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- rs2089505177
- ClinGen CA414527865
- ClinVar RCV001040147
- Ensembl rs2089505177
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.11
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 0.11
- SIFT 0.32
- EVE 0.21
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)