A26T (p.Ala26Thr) variant of IDUA (Alpha-L-iduronidase)
A26T (p.Ala26Thr) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs746809894
- ClinGen CA2801110
- ClinVar RCV000884800
- ClinVar RCV001766789
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 10.50
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)