P3T (p.Pro3Thr) variant of IDUA (Alpha-L-iduronidase)
P3T (p.Pro3Thr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- ExAC rs761444907
- gnomAD rs761444907
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available