P6H (p.Pro6His) variant of IDUA (Alpha-L-iduronidase)
P6H (p.Pro6His) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P6H (p.Pro6His) variant details
- p.Pro6His
- TOPMed rs1257301694
- gnomAD rs1257301694
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 7.11
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available