G630D (p.Gly630Asp) variant of IDUA (Alpha-L-iduronidase)
G630D (p.Gly630Asp) 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 Hurler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G630D (p.Gly630Asp) variant details
- p.Gly630Asp
- rs2153023301
- ClinGen CA355965989
- ClinVar RCV001806437
- Ensembl rs2153023301
- Likely pathogenic
- Hurler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hurler syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)