H240Q (p.His240Gln) variant of IDUA (Alpha-L-iduronidase)
H240Q (p.His240Gln) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mucopolysaccharidosis type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
H240Q (p.His240Gln) variant details
- p.His240Gln
- rs1715096917
- ClinGen CA355962130
- ClinVar RCV001309288
- ClinVar RCV003490179
- Conflicting interpretations
- Mucopolysaccharidosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.95
- MetaLR 0.89
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.71
- ClinVar: Conflicting classifications of pathogenicity (Mucopolysaccharidosis type 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)