A12S (p.Ala12Ser) variant of IDUA (Alpha-L-iduronidase)
A12S (p.Ala12Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 4-987118-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.59
- PolyPhen-2 0.02
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available