T179M (p.Thr179Met) variant of IDUA (Alpha-L-iduronidase)
T179M (p.Thr179Met) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T179M (p.Thr179Met) variant details
- p.Thr179Met
- rs776098539
- ClinGen CA2801986
- NCI-TCGA Cosmic COSV9992
- cosmic curated COSV99926
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.84
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.07
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)