D203N (p.Asp203Asn) variant of IDUA (Alpha-L-iduronidase)
D203N (p.Asp203Asn) 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 Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D203N (p.Asp203Asn) variant details
- p.Asp203Asn
- rs2153021976
- ClinGen CA355961909
- ClinVar RCV001956544
- Ensembl rs2153021976
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.73
- AlphaMissense 0.93
- MetaLR 0.91
- MetaSVM 1.03
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)