R7H (p.Arg7His) variant of IDUA (Alpha-L-iduronidase)
R7H (p.Arg7His) 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 and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- gnomAD rs1200035624
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 11.50
- PolyPhen-2 0.10
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available