D349N (p.Asp349Asn) variant of IDUA (Alpha-L-iduronidase)
D349N (p.Asp349Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D349N (p.Asp349Asn) variant details
- p.Asp349Asn
- rs368454909
- ClinGen CA220497
- cosmic curated COSV56103
- ClinVar RCV000180110
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.79
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1; not provided)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I… (PMID 31194252)
- Cited in: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PMID 10466419)