E178K (p.Glu178Lys) variant of IDUA (Alpha-L-iduronidase)
E178K (p.Glu178Lys) 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, MPS-I-H/S; Hurler syndrome; Mucopolysaccharidosis, MPS-I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E178K (p.Glu178Lys) variant details
- p.Glu178Lys
- rs992336192
- ClinGen CA355961709
- NCI-TCGA Cosmic COSV5610
- cosmic curated COSV56103
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-I-H/S; Hurler syndrome; Mucopolysaccharidosis, MPS-I
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.95
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-I-H/S; Hurler syndrome; Mucopolysacch)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the African/African-American population (allele frequency 2.4e-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)