A99V (p.Ala99Val) variant of FOXO1 (Forkhead box protein O1)
A99V (p.Ala99Val) in FOXO1 (Forkhead box protein O1) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
A99V (p.Ala99Val) variant details
- p.Ala99Val
- gnomAD rs990684812
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- MetaLR 0.59
- MetaSVM -0.35
- CADD 7.79
- PolyPhen-2 0.05
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- Structural context available