C135R (p.Cys135Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
C135R (p.Cys135Arg) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature.
C135R (p.Cys135Arg) variant details
- p.Cys135Arg
- rs2118355570
- ClinGen CA374265439
- ClinVar RCV001376704
- Ensembl rs2118355570
- Pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.98
- MetaLR 0.85
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Cited in: A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (PMID 8299883)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)