D35H (p.Asp35His) variant of IDS (Iduronate 2-sulfatase)
D35H (p.Asp35His) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
D35H (p.Asp35His) variant details
- p.Asp35His
- rs2089514224
- ClinGen CA414528115
- ClinVar RCV001290989
- ClinVar RCV004793370
- Likely pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.09
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 0.71
- SIFT 0.03
- MutPred 0.30
- ClinVar: Likely pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)