G409R (p.Gly409Arg) variant of IDUA (Alpha-L-iduronidase)
G409R (p.Gly409Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mucopolysaccharidosis type 1; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G409R (p.Gly409Arg) variant details
- p.Gly409Arg
- rs11934801
- ClinGen CA248659
- ClinVar RCV000012686
- ClinVar RCV000078375
- Conflicting interpretations
- Mucopolysaccharidosis type 1; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.47
- CADD 19.30
- PolyPhen-2 0.47
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Mucopolysaccharidosis type 1; not provided)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the HGDP:SAN population (allele frequency 0.5)
- Structural context available
- Cited in: Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the… (PMID 8328452)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)