A8T (p.Ala8Thr) variant of IDUA (Alpha-L-iduronidase)
A8T (p.Ala8Thr) 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 0.07 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- TOPMed rs1441549249
- gnomAD rs1441549249
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0743
- CADD 2.13
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available