P25R (p.Pro25Arg) variant of IDUA (Alpha-L-iduronidase)
P25R (p.Pro25Arg) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- gnomAD 4-987154-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 18.00
- Population evidence available
- Structural context available
- Literature evidence available