D46N (p.Asp46Asn) variant of IDS (Iduronate 2-sulfatase)
D46N (p.Asp46Asn) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs2089504816
- ClinGen CA414527783
- NCI-TCGA Cosmic COSV6171
- cosmic curated COSV61714
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (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)