H30Q (p.His30Gln) variant of IDUA (Alpha-L-iduronidase)
H30Q (p.His30Gln) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hurler syndrome; Mucopolysaccharidosis, MPS-I-S; Mucopolysaccharidosis, MPS-I-H/. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- rs553425887
- ClinGen CA91144696
- ClinVar RCV001936986
- ClinVar RCV002484713
- Uncertain significance
- Hurler syndrome; Mucopolysaccharidosis, MPS-I-S; Mucopolysaccharidosis, MPS-I-H/
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 12.70
- PolyPhen-2 0.11
- SIFT 0.09
- ClinVar: Uncertain significance (Hurler syndrome; Mucopolysaccharidosis, MPS-I-S; Mucopolysacchar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)