A280D (p.Ala280Asp) variant of ALDOB (Fructose-bisphosphate aldolase B)
A280D (p.Ala280Asp) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A280D (p.Ala280Asp) variant details
- p.Ala280Asp
- rs1831103567
- ClinGen CA374264515
- ClinVar RCV001376710
- TOPMed rs1831103567
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)