E54K (p.Glu54Lys) variant of ALDOB (Fructose-bisphosphate aldolase B)
E54K (p.Glu54Lys) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- ExAC rs752642604
- TOPMed rs752642604
- gnomAD rs752642604
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 26.30
- PolyPhen-2 0.72
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)