A12G (p.Ala12Gly) variant of IDUA (Alpha-L-iduronidase)
A12G (p.Ala12Gly) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- gnomAD 4-987119-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 8.63
- PolyPhen-2 0.07
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available