C390R (p.Cys390Arg) variant of TBX3 (T-box transcription factor TBX3)
C390R (p.Cys390Arg) 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 0.41 / 1. The record also includes population frequency data.
C390R (p.Cys390Arg) variant details
- p.Cys390Arg
- rs767883253
- ExAC rs767883253
- gnomAD rs767883253
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.13
- MetaLR 0.36
- MetaSVM -0.66
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available