N26Y (p.Asn26Tyr) variant of ALDOB (Fructose-bisphosphate aldolase B)
N26Y (p.Asn26Tyr) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N26Y (p.Asn26Tyr) variant details
- p.Asn26Tyr
- rs760539963
- ClinGen CA5161750
- ClinVar RCV003225854
- ExAC rs760539963
- Uncertain significance
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 23.00
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)