R46W (p.Arg46Trp) variant of ALDOB (Fructose-bisphosphate aldolase B)
R46W (p.Arg46Trp) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ALDOB-related disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- rs41281039
- ClinGen CA129579
- ClinVar RCV000023970
- ClinVar RCV000728543
- Uncertain significance
- ALDOB-related disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (ALDOB-related disorder; not specified; not provided)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial… (PMID 20848650)
- Cited in: Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PMID 10024431)