E53* (p.Glu53Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
E53* (p.Glu53Ter) in ALDOB (Fructose-bisphosphate aldolase B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- rs2490128994
- ClinGen CA374265978
- ClinVar RCV002309134
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)