D349Y (p.Asp349Tyr) variant of IDUA (Alpha-L-iduronidase)
D349Y (p.Asp349Tyr) 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, MPS-I-S; Mucopolysaccharidosis, MPS-I-H/S; Hurler syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D349Y (p.Asp349Tyr) variant details
- p.Asp349Tyr
- rs368454909
- ClinGen CA355963146
- ClinVar RCV000790541
- ClinVar RCV005036124
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-I-S; Mucopolysaccharidosis, MPS-I-H/S; Hurler syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-I-S; Mucopolysaccharidosis, MPS-I-H/S)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)