G76D (p.Gly76Asp) variant of ALDOB (Fructose-bisphosphate aldolase B)
G76D (p.Gly76Asp) 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 0.67 / 1. The record also includes population frequency data and structural context.
G76D (p.Gly76Asp) variant details
- p.Gly76Asp
- ExAC rs764779161
- TOPMed rs764779161
- gnomAD rs764779161
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available