A20T (p.Ala20Thr) variant of IDUA (Alpha-L-iduronidase)
A20T (p.Ala20Thr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD rs1200710862
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 5.44
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the Ashkenazi Jewish population (allele frequency 4.9e-05)
- Structural context available