L102P (p.Leu102Pro) variant of IDS (Iduronate 2-sulfatase)
L102P (p.Leu102Pro) 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 0.85 / 1. The record also includes published literature and structural context.
L102P (p.Leu102Pro) variant details
- p.Leu102Pro
- rs1557340261
- ClinGen CA414526516
- ClinVar RCV001837738
- gnomAD rs1557340261
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.82
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Likely pathogenic (in MPS2)
- UniProt: Likely pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)