A20R (p.Ala20Arg) variant of IDUA (Alpha-L-iduronidase)
A20R (p.Ala20Arg) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A20R (p.Ala20Arg) variant details
- p.Ala20Arg
- gnomAD 4-987141-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available