G112D (p.Gly112Asp) variant of FOXO1 (Forkhead box protein O1)
G112D (p.Gly112Asp) in FOXO1 (Forkhead box protein O1) 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 0.32 / 1. The record also includes population frequency data.
G112D (p.Gly112Asp) variant details
- p.Gly112Asp
- 1000Genomes rs1030291335
- TOPMed rs1030291335
- gnomAD rs1030291335
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.15
- MetaLR 0.58
- MetaSVM -0.39
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00041)