P21Q (p.Pro21Gln) variant of IDUA (Alpha-L-iduronidase)
P21Q (p.Pro21Gln) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P21Q (p.Pro21Gln) variant details
- p.Pro21Gln
- gnomAD 4-987141-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 9.14
- Population evidence available
- Structural context available
- Literature evidence available