A9G (p.Ala9Gly) variant of IDUA (Alpha-L-iduronidase)
A9G (p.Ala9Gly) 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 0.54 / 1. The record also includes published literature and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- rs1369414449
- ClinGen CA355945280
- ClinVar RCV001208509
- gnomAD rs1369414449
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.09
- MetaLR 0.77
- MetaSVM -0.02
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.26
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)