P160H (p.Pro160His) variant of IDS (Iduronate 2-sulfatase)
P160H (p.Pro160His) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P160H (p.Pro160His) variant details
- p.Pro160His
- rs104894856
- ClinGen CA414523038
- ClinVar RCV000598044
- ClinVar RCV004596300
- Likely pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.96
- AlphaMissense 0.88
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)