Y85* (p.Tyr85Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)

Name: ALDOB Y85* (p.Tyr85Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

Y85* (p.Tyr85Ter) in ALDOB (Fructose-bisphosphate aldolase B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.

Y85* (p.Tyr85Ter) variant details

p.Tyr85Ter
rs761063847
ClinGen CA374265776
ClinVar RCV002007182
ClinVar RCV002563614
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Cited in: Hereditary Fructose Intolerance. (PMID 26677512)
Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)