P22R (p.Pro22Arg) variant of IDUA (Alpha-L-iduronidase)
P22R (p.Pro22Arg) 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.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- rs751289519
- gnomAD 4-987143-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 17.90
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available