M1V (p.Met1Val) variant of IDUA (Alpha-L-iduronidase)
M1V (p.Met1Val) 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 0.48 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1553914737
- ClinGen CA355945206
- ClinVar RCV001783462
- ClinVar RCV001868850
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- MetaLR 0.64
- MetaSVM -0.33
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)