P5L (p.Pro5Leu) variant of FOXO3 (Forkhead box protein O3)
P5L (p.Pro5Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs1463974336
- ClinGen CA365336814
- ClinVar RCV004352975
- gnomAD rs1463974336
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- MetaLR 0.38
- MetaSVM -0.27
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.7e-05)
- Structural context available