T179R (p.Thr179Arg) variant of IDUA (Alpha-L-iduronidase)
T179R (p.Thr179Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T179R (p.Thr179Arg) variant details
- p.Thr179Arg
- rs776098539
- ClinGen CA355961718
- ClinVar RCV000672356
- ClinVar RCV001378363
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.07
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)