F40L (p.Phe40Leu) variant of TBX3 (T-box transcription factor TBX3)
F40L (p.Phe40Leu) in TBX3 (T-box transcription factor TBX3) 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 0.72 / 1. The record also includes population frequency data.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.78
- CADD 27.90
- PolyPhen-2 0.91
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)