D45H (p.Asp45His) variant of IDS (Iduronate 2-sulfatase)
D45H (p.Asp45His) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MPS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D45H (p.Asp45His) variant details
- p.Asp45His
- rs869025301
- ClinGen CA356953
- ClinVar RCV000207419
- Ensembl rs869025301
- Pathogenic
- in MPS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)