T364M (p.Thr364Met) variant of IDUA (Alpha-L-iduronidase)
T364M (p.Thr364Met) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T364M (p.Thr364Met) variant details
- p.Thr364Met
- rs121965032
- ClinGen CA256126
- ClinVar RCV000012700
- ClinVar RCV000588505
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.91
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. (PMID 9391892)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)