D349G (p.Asp349Gly) variant of IDUA (Alpha-L-iduronidase)
D349G (p.Asp349Gly) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D349G (p.Asp349Gly) variant details
- p.Asp349Gly
- rs371397270
- ClinGen CA2802173
- ClinVar RCV001222699
- ClinVar RCV001586065
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.90
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)