Q111* (p.Gln111Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q111* (p.Gln111Ter) 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 0.53 / 1. The record also includes population frequency data and published literature.
Q111* (p.Gln111Ter) variant details
- p.Gln111Ter
- rs528914024
- ClinGen CA196957692
- ClinVar RCV001376703
- 1000Genomes rs528914024
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)