G84R (p.Gly84Arg) variant of IDUA (Alpha-L-iduronidase)
G84R (p.Gly84Arg) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G84R (p.Gly84Arg) variant details
- p.Gly84Arg
- UniProt VAR 066216
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and… (PMID 21394825)
- Cited in: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PMID 10466419)