P3A (p.Pro3Ala) variant of IDUA (Alpha-L-iduronidase)
P3A (p.Pro3Ala) 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.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- ExAC rs761444907
- gnomAD rs761444907
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 7.6e-06)
- Structural context available