A28T (p.Ala28Thr) variant of IDUA (Alpha-L-iduronidase)
A28T (p.Ala28Thr) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available