L11R (p.Leu11Arg) variant of FOXO3 (Forkhead box protein O3)
L11R (p.Leu11Arg) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- rs1191293561
- ClinGen CA365336848
- ClinVar RCV003431984
- TOPMed rs1191293561
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.37
- MetaLR 0.42
- MetaSVM -0.25
- CADD 21.20
- PolyPhen-2 0.26
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available