D301E (p.Asp301Glu) variant of IDUA (Alpha-L-iduronidase)
D301E (p.Asp301Glu) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D301E (p.Asp301Glu) variant details
- p.Asp301Glu
- rs759390416
- NCI-TCGA TCGA novel
- ClinGen CA355962528
- ClinVar RCV001975007
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.79
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)