G112C (p.Gly112Cys) variant of FOXO1 (Forkhead box protein O1)
G112C (p.Gly112Cys) 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 0.27 / 1. The record also includes population frequency data.
G112C (p.Gly112Cys) variant details
- p.Gly112Cys
- rs1878223078
- ClinGen CA388007052
- ClinVar RCV004097933
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.16
- MetaLR 0.51
- MetaSVM -0.35
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)