P25T (p.Pro25Thr) variant of IDUA (Alpha-L-iduronidase)
P25T (p.Pro25Thr) 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 0.18 / 1. The record also includes population frequency data and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- ExAC rs775731864
- TOPMed rs775731864
- gnomAD rs775731864
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 6.74
- PolyPhen-2 0.01
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available