A79V (p.Ala79Val) variant of IDUA (Alpha-L-iduronidase)
A79V (p.Ala79Val) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- rs747981483
- ClinGen CA356987
- ClinVar RCV001956540
- ClinVar RCV003130640
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 0.52
- MetaLR 0.81
- MetaSVM 0.58
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.25
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Population evidence available
- Structural context available
- Cited in: Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I… (PMID 15300847)
- Cited in: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PMID 10466419)