H30T (p.His30Thr) variant of IDUA (Alpha-L-iduronidase)
H30T (p.His30Thr) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H30T (p.His30Thr) variant details
- p.His30Thr
- rs1193085446
- gnomAD 4-987170-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available