E275K (p.Glu275Lys) variant of TBX3 (T-box transcription factor TBX3)
E275K (p.Glu275Lys) 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 0.90 / 1. The record also includes population frequency data.
E275K (p.Glu275Lys) variant details
- p.Glu275Lys
- rs1234535767
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57471
- TOPMed rs1234535767
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available