N348D (p.Asn348Asp) variant of IDUA (Alpha-L-iduronidase)
N348D (p.Asn348Asp) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N348D (p.Asn348Asp) variant details
- p.Asn348Asp
- gnomAD rs1715140900
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.80
- CADD 25.40
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- UniProt: Uncertain significance (in MPS1S)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available