Q12* (p.Gln12Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q12* (p.Gln12Ter) 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 0.74 / 1. The record also includes population frequency data and published literature.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- rs190631679
- ClinGen CA374266252
- ClinVar RCV001941654
- 1000Genomes rs190631679
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)