P533Q (p.Pro533Gln) variant of IDUA (Alpha-L-iduronidase)
P533Q (p.Pro533Gln) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P533Q (p.Pro533Gln) variant details
- p.Pro533Gln
- rs121965021
- ClinGen CA355965028
- ClinVar RCV002722150
- ClinVar RCV004700820
- Conflicting interpretations
- not specified; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.67
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H and MPS1H/S)
- UniProt: Pathogenic (in MPS1H and MPS1H/S)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)