H30Y (p.His30Tyr) variant of IDUA (Alpha-L-iduronidase)
H30Y (p.His30Tyr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- TOPMed rs896790485
- gnomAD rs896790485
- Missense
- Variant Prioritization Score for Impact Estimate 0.0806
- CADD 1.96
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available