G112R (p.Gly112Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
G112R (p.Gly112Arg) 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 not provided; Inborn genetic diseases; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
G112R (p.Gly112Arg) variant details
- p.Gly112Arg
- rs373330514
- ClinGen CA5161651
- ClinVar RCV000729970
- ClinVar RCV002533115
- Uncertain significance
- not provided; Inborn genetic diseases; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- 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)