A92V (p.Ala92Val) variant of FOXO1 (Forkhead box protein O1)
A92V (p.Ala92Val) in FOXO1 (Forkhead box protein O1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
A92V (p.Ala92Val) variant details
- p.Ala92Val
- gnomAD rs914847913
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.29
- MetaLR 0.66
- MetaSVM -0.35
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00049)