D88E (p.Asp88Glu) variant of ALDOB (Fructose-bisphosphate aldolase B)
D88E (p.Asp88Glu) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
D88E (p.Asp88Glu) variant details
- p.Asp88Glu
- rs200585150
- ClinGen CA5161686
- ClinVar RCV000674895
- ClinVar RCV000725650
- Conflicting interpretations
- not specified; not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 20.80
- PolyPhen-2 0.13
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hereditary fructosuria)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)