G41R (p.Gly41Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
G41R (p.Gly41Arg) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data.
G41R (p.Gly41Arg) variant details
- p.Gly41Arg
- ExAC rs755336557
- TOPMed rs755336557
- gnomAD rs755336557
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)