M1I (p.Met1Ile) variant of IDUA (Alpha-L-iduronidase)
M1I (p.Met1Ile) 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 0.55 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1553914740
- ClinGen CA355945212
- ClinVar RCV000673251
- ClinVar RCV003323676
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- MetaLR 0.68
- MetaSVM 0.20
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)