N63D (p.Asn63Asp) variant of IDS (Iduronate 2-sulfatase)
N63D (p.Asn63Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
N63D (p.Asn63Asp) variant details
- p.Asn63Asp
- rs193302909
- ClinGen CA337036725
- ClinVar RCV000790544
- UniProt VAR 007316
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.71
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutation analysis in 20 patients with Hunter disease. (PMID 8664909)
- Cited in: Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. (PMID 8940265)