C107R (p.Cys107Arg) variant of FOXO1 (Forkhead box protein O1)
C107R (p.Cys107Arg) 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 0.34 / 1. The record also includes population frequency data.
C107R (p.Cys107Arg) variant details
- p.Cys107Arg
- rs1005282881
- ClinGen CA248985512
- ClinVar RCV004232509
- TOPMed rs1005282881
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.26
- MetaLR 0.68
- MetaSVM -0.37
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00022)