Q380R (p.Gln380Arg) variant of IDUA (Alpha-L-iduronidase)
Q380R (p.Gln380Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Q380R (p.Gln380Arg) variant details
- p.Gln380Arg
- rs762903007
- ClinGen CA2802202
- ClinVar RCV000665646
- ClinVar RCV001861745
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.87
- CADD 24.70
- PolyPhen-2 0.61
- SIFT 0.02
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S and MPS1S)
- UniProt: Pathogenic (in MPS1H/S and MPS1S)
- Most common in the REMAINING population (allele frequency 5.1e-05)
- 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)