R57Q (p.Arg57Gln) variant of ALDOB (Fructose-bisphosphate aldolase B)
R57Q (p.Arg57Gln) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- ESP rs370761101
- ExAC rs370761101
- TOPMed rs370761101
- gnomAD rs370761101
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)