R56P (p.Arg56Pro) variant of ALDOB (Fructose-bisphosphate aldolase B)
R56P (p.Arg56Pro) 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 0.70 / 1. The record also includes population frequency data.
R56P (p.Arg56Pro) variant details
- p.Arg56Pro
- ExAC rs200050226
- TOPMed rs200050226
- gnomAD rs200050226
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available