L257P (p.Leu257Pro) variant of ALDOB (Fructose-bisphosphate aldolase B)
L257P (p.Leu257Pro) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L257P (p.Leu257Pro) variant details
- p.Leu257Pro
- rs764701775
- ClinGen CA5161480
- ClinVar RCV001376709
- UniProt VAR 000555
- Pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PMID 10024431)
- Cited in: Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the… (PMID 15532022)