A9E (p.Ala9Glu) variant of IDUA (Alpha-L-iduronidase)
A9E (p.Ala9Glu) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD rs1369414449
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.09
- MetaLR 0.77
- MetaSVM -0.02
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available