N348K (p.Asn348Lys) variant of IDUA (Alpha-L-iduronidase)
N348K (p.Asn348Lys) 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 Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N348K (p.Asn348Lys) variant details
- p.Asn348Lys
- rs746766617
- ClinGen CA2802172
- ClinVar RCV000674066
- ClinVar RCV000807531
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.76
- CADD 21.20
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1S)
- UniProt: Pathogenic (in MPS1S)
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Cited in: IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and… (PMID 21394825)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)