G27A (p.Gly27Ala) variant of ALDOB (Fructose-bisphosphate aldolase B)
G27A (p.Gly27Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- TOPMed rs1831208245
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available