A338V (p.Ala338Val) variant of ALDOB (Fructose-bisphosphate aldolase B)
A338V (p.Ala338Val) 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 not provided; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A338V (p.Ala338Val) variant details
- p.Ala338Val
- rs77718928
- ClinGen CA199050
- ClinVar RCV000169047
- ClinVar RCV000598061
- Pathogenic/Likely pathogenic
- not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- 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)