G70W (p.Gly70Trp) variant of TBX3 (T-box transcription factor TBX3)
G70W (p.Gly70Trp) 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 0.82 / 1.
G70W (p.Gly70Trp) variant details
- p.Gly70Trp
- rs1006993913
- TOPMed rs1006993913
- gnomAD rs1006993913
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.79
- MetaLR 0.80
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.60
- UniProt: Variant assessed as somatic; moderate impact.