R7G (p.Arg7Gly) variant of IDUA (Alpha-L-iduronidase)
R7G (p.Arg7Gly) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- ExAC rs758122214
- gnomAD rs758122214
- Missense
- Variant Prioritization Score for Impact Estimate 0.0928
- CADD 5.67
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 3.8e-05)
- Structural context available