T364R (p.Thr364Arg) variant of IDUA (Alpha-L-iduronidase)
T364R (p.Thr364Arg) 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 0.89 / 1. The record also includes published literature and structural context.
T364R (p.Thr364Arg) variant details
- p.Thr364Arg
- rs121965032
- ClinGen CA355963316
- ClinVar RCV002848228
- Ensembl rs121965032
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)