S633W (p.Ser633Trp) variant of IDUA (Alpha-L-iduronidase)
S633W (p.Ser633Trp) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S633W (p.Ser633Trp) variant details
- p.Ser633Trp
- rs886043347
- ClinGen CA10605410
- ClinVar RCV000323838
- ClinVar RCV001248897
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.87
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)