P21R (p.Pro21Arg) variant of IDUA (Alpha-L-iduronidase)
P21R (p.Pro21Arg) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- gnomAD 4-987129-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.01
- Population evidence available
- Structural context available
- Literature evidence available