P533L (p.Pro533Leu) variant of IDUA (Alpha-L-iduronidase)
P533L (p.Pro533Leu) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P533L (p.Pro533Leu) variant details
- p.Pro533Leu
- rs121965021
- ClinGen CA355965029
- ClinVar RCV000493029
- ClinVar RCV001249043
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.73
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1; not provided)
- EBI: Pathogenic (in MPS1H and MPS1H/S)
- UniProt: Pathogenic (in MPS1H and MPS1H/S)
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)