A19S (p.Ala19Ser) variant of IDUA (Alpha-L-iduronidase)
A19S (p.Ala19Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 4-987139-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 9.26
- PolyPhen-2 0.02
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available