D104N (p.Asp104Asn) variant of IDS (Iduronate 2-sulfatase)
D104N (p.Asp104Asn) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D104N (p.Asp104Asn) variant details
- p.Asp104Asn
- rs1557340258
- gnomAD rs1557340258
- Uncertain significance
- not specified; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.70
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Mucopolysaccharidosis, MPS-II)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available