L238Q (p.Leu238Gln) variant of IDUA (Alpha-L-iduronidase)
L238Q (p.Leu238Gln) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L238Q (p.Leu238Gln) variant details
- p.Leu238Gln
- rs148789453
- ClinGen CA2802065
- ClinVar RCV000256027
- ClinVar RCV000668680
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.90
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I… (PMID 15300847)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)