C178R (p.Cys178Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
C178R (p.Cys178Arg) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature.
C178R (p.Cys178Arg) variant details
- p.Cys178Arg
- rs2118354587
- ClinGen CA374265183
- ClinVar RCV001376706
- Ensembl rs2118354587
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Cited in: The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (PMID 15880727)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)