P29A (p.Pro29Ala) variant of IDUA (Alpha-L-iduronidase)
P29A (p.Pro29Ala) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- gnomAD 4-987169-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available