R493P (p.Arg493Pro) variant of IDS (Iduronate 2-sulfatase)
R493P (p.Arg493Pro) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R493P (p.Arg493Pro) variant details
- p.Arg493Pro
- rs782347729
- ClinGen CA414518002
- ClinVar RCV000790551
- ExAC rs782347729
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.31
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)