F52L (p.Phe52Leu) variant of IDUA (Alpha-L-iduronidase)
F52L (p.Phe52Leu) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- rs1421520718
- ClinGen CA355945700
- ClinVar RCV000669885
- ClinVar RCV002507168
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 24.00
- PolyPhen-2 0.52
- SIFT 0.26
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)