R4* (p.Arg4Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
R4* (p.Arg4Ter) in ALDOB (Fructose-bisphosphate aldolase B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
R4* (p.Arg4Ter) variant details
- p.Arg4Ter
- rs118204428
- ClinGen CA114310
- ClinVar RCV000000500
- ExAC rs118204428
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Cited in: Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. (PMID 8071980)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)