L271S (p.Leu271Ser) variant of ALDOB (Fructose-bisphosphate aldolase B)
L271S (p.Leu271Ser) 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 Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L271S (p.Leu271Ser) variant details
- p.Leu271Ser
- rs2118343224
- ClinGen CA374264572
- ClinVar RCV002211036
- Ensembl rs2118343224
- Pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Hereditary fructosuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)