A12E (p.Ala12Glu) variant of IDUA (Alpha-L-iduronidase)
A12E (p.Ala12Glu) 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 0.19 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- TOPMed rs1009685278
- gnomAD rs1009685278
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 6.58
- PolyPhen-2 0.01
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available