R7P (p.Arg7Pro) variant of IDUA (Alpha-L-iduronidase)
R7P (p.Arg7Pro) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- gnomAD 4-987098-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.59
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available