G76S (p.Gly76Ser) variant of ALDOB (Fructose-bisphosphate aldolase B)
G76S (p.Gly76Ser) 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 Inborn genetic diseases; not provided; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G76S (p.Gly76Ser) variant details
- p.Gly76Ser
- rs759204107
- ClinGen CA5161692
- ClinVar RCV000592985
- ClinVar RCV002532512
- Uncertain significance
- Inborn genetic diseases; not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)