A150P (p.Ala150Pro) variant of ALDOB (Fructose-bisphosphate aldolase B)
A150P (p.Ala150Pro) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
A150P (p.Ala150Pro) variant details
- p.Ala150Pro
- rs1800546
- ClinGen CA339810
- ClinVar RCV000000493
- ClinVar RCV000224056
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 25.60
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Cited in: Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PMID 10024431)
- Cited in: Mutation analysis in Turkish patients with hereditary fructose intolerance. (PMID 11757579)