L50I (p.Leu50Ile) variant of FOXP3 (Forkhead box protein P3)
L50I (p.Leu50Ile) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
L50I (p.Leu50Ile) variant details
- p.Leu50Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.32
- CADD 22.00
- PolyPhen-2 0.71
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)