I74T (p.Ile74Thr) variant of ALDOB (Fructose-bisphosphate aldolase B)
I74T (p.Ile74Thr) 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 Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I74T (p.Ile74Thr) variant details
- p.Ile74Thr
- rs781023784
- ClinGen CA5161697
- ClinVar RCV000666190
- UniProt VAR 020822
- Conflicting interpretations
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the… (PMID 15532022)
- Cited in: Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PMID 10024431)