A25V (p.Ala25Val) variant of ALDOB (Fructose-bisphosphate aldolase B)
A25V (p.Ala25Val) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar 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 0.51 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- cosmic curated COSV66397
- TOPMed rs1178025343
- gnomAD rs1178025343
- Uncertain significance
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary fructosuria)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available