K48N (p.Lys48Asn) variant of ALDOB (Fructose-bisphosphate aldolase B)
K48N (p.Lys48Asn) 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 0.62 / 1. The record also includes population frequency data and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- TOPMed rs1420389591
- Uncertain significance
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (Hereditary fructosuria)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available