V90L (p.Val90Leu) variant of FOXO1 (Forkhead box protein O1)
V90L (p.Val90Leu) 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.
V90L (p.Val90Leu) variant details
- p.Val90Leu
- rs1348645141
- ClinGen CA388007184
- ClinVar RCV004267900
- TOPMed rs1348645141
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.19
- MetaLR 0.69
- MetaSVM -0.30
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.79
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.7e-05)