R56S (p.Arg56Ser) variant of ALDOB (Fructose-bisphosphate aldolase B)
R56S (p.Arg56Ser) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- ExAC rs201397971
- TOPMed rs201397971
- gnomAD rs201397971
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)