H30R (p.His30Arg) variant of IDUA (Alpha-L-iduronidase)
H30R (p.His30Arg) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H30R (p.His30Arg) variant details
- p.His30Arg
- gnomAD 4-987173-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 9.67
- PolyPhen-2 0.05
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available