P25A (p.Pro25Ala) variant of IDUA (Alpha-L-iduronidase)
P25A (p.Pro25Ala) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- ExAC rs775731864
- TOPMed rs775731864
- gnomAD rs775731864
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 4.29
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 6.3e-05)
- Structural context available