P86R (p.Pro86Arg) variant of IDS (Iduronate 2-sulfatase)
P86R (p.Pro86Arg) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
P86R (p.Pro86Arg) variant details
- p.Pro86Arg
- rs1557340280
- ClinGen CA414526902
- ClinVar RCV001291743
- UniProt VAR 007322
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.99
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.89
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Population evidence available
- Structural context available
- Cited in: Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). (PMID 8281149)
- Cited in: Mutation analysis in 20 patients with Hunter disease. (PMID 8664909)