L92P (p.Leu92Pro) variant of IDS (Iduronate 2-sulfatase)
L92P (p.Leu92Pro) 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 Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L92P (p.Leu92Pro) variant details
- p.Leu92Pro
- rs2089497300
- ClinGen CA414526758
- ClinVar RCV001291036
- UniProt VAR 007328
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). (PMID 7728156)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)