A15S (p.Ala15Ser) variant of IDUA (Alpha-L-iduronidase)
A15S (p.Ala15Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 4-987127-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 9.74
- PolyPhen-2 0.03
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available