R5A (p.Arg5Ala) variant of IDUA (Alpha-L-iduronidase)
R5A (p.Arg5Ala) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R5A (p.Arg5Ala) variant details
- p.Arg5Ala
- gnomAD 4-987094-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available