G75E (p.Gly75Glu) variant of ALDOB (Fructose-bisphosphate aldolase B)
G75E (p.Gly75Glu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- ESP rs375679562
- ExAC rs375679562
- TOPMed rs375679562
- gnomAD rs375679562
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available