G51D (p.Gly51Asp) variant of IDUA (Alpha-L-iduronidase)
G51D (p.Gly51Asp) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- rs794726877
- ClinGen CA274902
- ClinVar RCV000173082
- ClinVar RCV000208594
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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: identification of 8 novel mutations and determination of the frequency of the two common… (PMID 7951228)