M1T (p.Met1Thr) variant of IDUA (Alpha-L-iduronidase)
M1T (p.Met1Thr) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs753767675
- ClinGen CA2801095
- ClinVar RCV000792346
- ClinVar RCV005047056
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- MetaLR 0.71
- MetaSVM 0.27
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)