D349H (p.Asp349His) variant of IDUA (Alpha-L-iduronidase)
D349H (p.Asp349His) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D349H (p.Asp349His) variant details
- p.Asp349His
- rs368454909
- ClinGen CA355963148
- ClinVar RCV003340978
- ClinVar RCV005871138
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.93
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Likely pathogenic (in MPS1H)
- UniProt: Likely pathogenic (in MPS1H)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)