N335K (p.Asn335Lys) variant of ALDOB (Fructose-bisphosphate aldolase B)
N335K (p.Asn335Lys) 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 not provided; Glycogen storage disease; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N335K (p.Asn335Lys) variant details
- p.Asn335Lys
- rs78340951
- ClinGen CA339812
- ClinVar RCV000000498
- ClinVar RCV000723841
- Pathogenic
- not provided; Glycogen storage disease; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Glycogen storage disease; Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available
- Cited in: Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PMID 10024431)
- Cited in: Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. (PMID 12205126)