P6R (p.Pro6Arg) variant of IDUA (Alpha-L-iduronidase)
P6R (p.Pro6Arg) 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.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- TOPMed rs1257301694
- gnomAD rs1257301694
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 7.08
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available