T179A (p.Thr179Ala) variant of IDUA (Alpha-L-iduronidase)
T179A (p.Thr179Ala) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T179A (p.Thr179Ala) variant details
- p.Thr179Ala
- rs766030255
- ClinGen CA91167233
- ClinVar RCV001994158
- ClinVar RCV003134317
- Conflicting interpretations
- not provided; not specified; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.83
- CADD 27.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Mucopolysaccharidosis type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)