L218P (p.Leu218Pro) variant of IDUA (Alpha-L-iduronidase)
L218P (p.Leu218Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L218P (p.Leu218Pro) variant details
- p.Leu218Pro
- rs869025584
- ClinGen CA356986
- ClinVar RCV000208593
- ClinVar RCV000592964
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.92
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common… (PMID 7951228)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)