P29S (p.Pro29Ser) variant of IDUA (Alpha-L-iduronidase)
P29S (p.Pro29Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- gnomAD 4-987169-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available