H30D (p.His30Asp) variant of IDUA (Alpha-L-iduronidase)
H30D (p.His30Asp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H30D (p.His30Asp) variant details
- p.His30Asp
- gnomAD 4-987172-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 9.25
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available