G112V (p.Gly112Val) variant of FOXO1 (Forkhead box protein O1)
G112V (p.Gly112Val) 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 0.31 / 1. The record also includes population frequency data.
G112V (p.Gly112Val) variant details
- p.Gly112Val
- rs1030291335
- ClinGen CA248985510
- ClinVar RCV004214613
- 1000Genomes rs1030291335
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.13
- MetaLR 0.57
- MetaSVM -0.41
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)