P86L (p.Pro86Leu) variant of IDS (Iduronate 2-sulfatase)
P86L (p.Pro86Leu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P86L (p.Pro86Leu) variant details
- p.Pro86Leu
- rs1557340280
- ClinGen CA414526900
- ClinVar RCV000632180
- ClinVar RCV002458004
- Pathogenic
- not provided; Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (not provided; Mucopolysaccharidosis, MPS-II; Mucopolysaccharidos)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)
- Cited in: Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). (PMID 7728156)