D34E (p.Asp34Glu) variant of ALDOB (Fructose-bisphosphate aldolase B)
D34E (p.Asp34Glu) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- 1000Genomes rs181247220
- ExAC rs181247220
- gnomAD rs181247220
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)