R169L (p.Arg169Leu) variant of TBX3 (T-box transcription factor TBX3)
R169L (p.Arg169Leu) 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 0.83 / 1. The record also includes population frequency data.
R169L (p.Arg169Leu) variant details
- p.Arg169Leu
- rs772182165
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57469
- NCI-TCGA Cosmic COSV5747
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.84
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)