P25L (p.Pro25Leu) variant of IDUA (Alpha-L-iduronidase)
P25L (p.Pro25Leu) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs1173398291
- ClinGen CA355945407
- ClinVar RCV003071248
- gnomAD rs1173398291
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0924
- CADD 4.45
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)