G226D (p.Gly226Asp) variant of ALDOB (Fructose-bisphosphate aldolase B)
G226D (p.Gly226Asp) 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 0.89 / 1. The record also includes published literature and structural context.
G226D (p.Gly226Asp) variant details
- p.Gly226Asp
- rs2118346537
- ClinGen CA374264850
- cosmic curated COSV66399
- ClinVar RCV001376708
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)