L229P (p.Leu229Pro) variant of ALDOB (Fructose-bisphosphate aldolase B)
L229P (p.Leu229Pro) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L229P (p.Leu229Pro) variant details
- p.Leu229Pro
- rs1554702433
- ClinGen CA374264835
- ClinVar RCV000665845
- UniProt VAR 020827
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- 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)