D301H (p.Asp301His) variant of IDUA (Alpha-L-iduronidase)
D301H (p.Asp301His) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D301H (p.Asp301His) variant details
- p.Asp301His
- rs1715120665
- ClinGen CA355962523
- ClinVar RCV003755220
- ClinVar RCV005636994
- Pathogenic/Likely pathogenic
- not provided; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)