P120H (p.Pro120His) variant of IDS (Iduronate 2-sulfatase)
P120H (p.Pro120His) 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 0.91 / 1. The record also includes published literature and structural context.
P120H (p.Pro120His) variant details
- p.Pro120His
- rs193302911
- ClinGen CA349872
- ClinVar RCV000205759
- UniProt VAR 007334
- Pathogenic
- in MPS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.88
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. (PMID 8111411)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)