R628P (p.Arg628Pro) variant of IDUA (Alpha-L-iduronidase)
R628P (p.Arg628Pro) 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 Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R628P (p.Arg628Pro) variant details
- p.Arg628Pro
- rs200448421
- ClinGen CA2802464
- ClinVar RCV001374701
- ClinVar RCV001780270
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.67
- CADD 27.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (PMID 12559846)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)