D56N (p.Asp56Asn) variant of IDS (Iduronate 2-sulfatase)
D56N (p.Asp56Asn) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D56N (p.Asp56Asn) variant details
- p.Asp56Asn
- rs781919816
- ClinGen CA414527612
- ClinVar RCV002574982
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.20
- MetaLR 0.98
- MetaSVM 1.15
- PolyPhen-2 0.03
- SIFT 0.06
- EVE 0.35
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)