A19D (p.Ala19Asp) variant of IDUA (Alpha-L-iduronidase)
A19D (p.Ala19Asp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- TOPMed rs1260725493
- gnomAD rs1260725493
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 10.50
- PolyPhen-2 0.11
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available