G91* (p.Gly91Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
G91* (p.Gly91Ter) 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 0.82 / 1. The record also includes published literature.
G91* (p.Gly91Ter) variant details
- p.Gly91Ter
- rs1831189846
- ClinGen CA374265734
- ClinVar RCV003597587
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.66
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)