E82K (p.Glu82Lys) variant of ALDOB (Fructose-bisphosphate aldolase B)
E82K (p.Glu82Lys) 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 0.80 / 1. The record also includes population frequency data.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- cosmic curated COSV10442
- ExAC rs777153196
- TOPMed rs777153196
- gnomAD rs777153196
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 27.60
- 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 African/African-American population (allele frequency 7.2e-05)