R7Q (p.Arg7Gln) variant of IDUA (Alpha-L-iduronidase)
R7Q (p.Arg7Gln) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs1478466087
- gnomAD 4-987150-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.72
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available