H342R (p.His342Arg) variant of IDS (Iduronate 2-sulfatase)
H342R (p.His342Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
H342R (p.His342Arg) variant details
- p.His342Arg
- Ensembl rs869025303
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.96
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.88
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II; not provided)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available