P21A (p.Pro21Ala) variant of IDUA (Alpha-L-iduronidase)
P21A (p.Pro21Ala) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- gnomAD 4-987143-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 18.30
- Population evidence available
- Structural context available
- Literature evidence available