R110G (p.Arg110Gly) variant of IDS (Iduronate 2-sulfatase)
R110G (p.Arg110Gly) 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 not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R110G (p.Arg110Gly) variant details
- p.Arg110Gly
- rs2124063287
- ClinGen CA414526288
- ClinVar RCV001378371
- ClinVar RCV004720886
- Pathogenic/Likely pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- 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)