A19P (p.Ala19Pro) variant of IDUA (Alpha-L-iduronidase)
A19P (p.Ala19Pro) 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 0.34 / 1. The record also includes published literature and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- rs1713786448
- ClinGen CA355945353
- ClinVar RCV001278326
- Ensembl rs1713786448
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 0.83
- SIFT 0.14
- MutPred 0.21
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)