S55L (p.Ser55Leu) variant of TBX3 (T-box transcription factor TBX3)
S55L (p.Ser55Leu) 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 0.65 / 1. The record also includes population frequency data.
S55L (p.Ser55Leu) variant details
- p.Ser55Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.57
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)