A319E (p.Ala319Glu) variant of IDUA (Alpha-L-iduronidase)
A319E (p.Ala319Glu) 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; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A319E (p.Ala319Glu) variant details
- p.Ala319Glu
- rs781534097
- ClinGen CA355962816
- ClinVar RCV002249078
- ClinVar RCV003101337
- Likely pathogenic
- Hurler syndrome; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.78
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Hurler syndrome; Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)