E54D (p.Glu54Asp) variant of ALDOB (Fructose-bisphosphate aldolase B)
E54D (p.Glu54Asp) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- ExAC rs2854709
- TOPMed rs2854709
- gnomAD rs2854709
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 18.70
- PolyPhen-2 0.11
- SIFT 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)