E276K (p.Glu276Lys) variant of IDUA (Alpha-L-iduronidase)
E276K (p.Glu276Lys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E276K (p.Glu276Lys) variant details
- p.Glu276Lys
- rs2534087208
- ClinVar RCV004587627
- ClinVar RCV004690507
- ClinVar RCV005038695
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.83
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S and MPS1S)
- UniProt: Pathogenic (in MPS1H/S and MPS1S)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)