P496L (p.Pro496Leu) variant of IDUA (Alpha-L-iduronidase)
P496L (p.Pro496Leu) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P496L (p.Pro496Leu) variant details
- p.Pro496Leu
- rs772416503
- ClinGen CA91170412
- ClinVar RCV000666799
- ClinVar RCV001756126
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.65
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). (PMID 7550232)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)