A19V (p.Ala19Val) variant of IDUA (Alpha-L-iduronidase)
A19V (p.Ala19Val) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs1260725493
- gnomAD rs1260725493
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 8.56
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available