G120C (p.Gly120Cys) variant of TBX3 (T-box transcription factor TBX3)
G120C (p.Gly120Cys) 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 0.84 / 1. The record also includes population frequency data.
G120C (p.Gly120Cys) variant details
- p.Gly120Cys
- rs985381779
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57469
- gnomAD rs985381779
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.87
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)