L238R (p.Leu238Arg) variant of IDUA (Alpha-L-iduronidase)
L238R (p.Leu238Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L238R (p.Leu238Arg) variant details
- p.Leu238Arg
- rs148789453
- ClinGen CA2802064
- ClinVar RCV003332024
- ESP rs148789453
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available