H240R (p.His240Arg) variant of IDUA (Alpha-L-iduronidase)
H240R (p.His240Arg) 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 type 1; not provided; Mucopolysaccharidosis, MPS-I-H/S. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H240R (p.His240Arg) variant details
- p.His240Arg
- rs1297784711
- ClinGen CA355962127
- ClinVar RCV001218009
- ClinVar RCV001810498
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1; not provided; Mucopolysaccharidosis, MPS-I-H/S
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.86
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1; not provided; Mucopolysaccharidosi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)