A327P (p.Ala327Pro) variant of IDUA (Alpha-L-iduronidase)
A327P (p.Ala327Pro) 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; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A327P (p.Ala327Pro) variant details
- p.Ala327Pro
- rs199801029
- ClinGen CA234128
- ClinVar RCV000180108
- ClinVar RCV000208605
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.69
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hu)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (PMID 12559846)
- Cited in: Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I… (PMID 15300847)