V222F (p.Val222Phe) variant of ALDOB (Fructose-bisphosphate aldolase B)
V222F (p.Val222Phe) 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 0.61 / 1. The record also includes population frequency data and published literature.
V222F (p.Val222Phe) variant details
- p.Val222Phe
- rs1554702442
- ClinGen CA374264875
- ClinVar RCV000668450
- ClinVar RCV004783835
- Pathogenic/Likely pathogenic
- not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)