L121P (p.Leu121Pro) variant of IDUA (Alpha-L-iduronidase)
L121P (p.Leu121Pro) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hurler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
L121P (p.Leu121Pro) variant details
- p.Leu121Pro
- rs2153021634
- ClinGen CA355961174
- ClinVar RCV001843996
- Ensembl rs2153021634
- Likely pathogenic
- Hurler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.94
- MetaLR 0.39
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Hurler syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)