R269W (p.Arg269Trp) variant of TBX3 (T-box transcription factor TBX3)
R269W (p.Arg269Trp) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
R269W (p.Arg269Trp) variant details
- p.Arg269Trp
- rs1198837775
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57472
- gnomAD rs1198837775
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available