A32P (p.Ala32Pro) variant of ALDOB (Fructose-bisphosphate aldolase B)
A32P (p.Ala32Pro) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs1831207922
- ClinGen CA374266123
- ClinVar RCV001167308
- gnomAD rs1831207922
- Uncertain significance
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)