H30P (p.His30Pro) variant of IDUA (Alpha-L-iduronidase)
H30P (p.His30Pro) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H30P (p.His30Pro) variant details
- p.His30Pro
- gnomAD 4-987173-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 13.40
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available