A28G (p.Ala28Gly) variant of IDUA (Alpha-L-iduronidase)
A28G (p.Ala28Gly) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- gnomAD 4-987167-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available