R5P (p.Arg5Pro) variant of IDUA (Alpha-L-iduronidase)
R5P (p.Arg5Pro) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- gnomAD rs1352458557
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 10.40
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available