R60* (p.Arg60Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
R60* (p.Arg60Ter) 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.
R60* (p.Arg60Ter) variant details
- p.Arg60Ter
- rs118204429
- ClinGen CA339813
- cosmic curated COSV66397
- ClinVar RCV000000501
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Cited in: Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. (PMID 8071980)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)