P3H (p.Pro3His) variant of IDUA (Alpha-L-iduronidase)
P3H (p.Pro3His) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- rs1333424959
- ClinGen CA355945226
- ClinVar RCV003053281
- TOPMed rs1333424959
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 21.20
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)