L18V (p.Leu18Val) variant of FOXO3 (Forkhead box protein O3)
L18V (p.Leu18Val) in FOXO3 (Forkhead box protein O3) 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 and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- TOPMed rs1475183338
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.18
- MetaLR 0.34
- MetaSVM -0.61
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.3e-05)
- Structural context available