E179K (p.Glu179Lys) variant of TBX3 (T-box transcription factor TBX3)
E179K (p.Glu179Lys) 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 0.81 / 1. The record also includes population frequency data.
E179K (p.Glu179Lys) variant details
- p.Glu179Lys
- rs754023417
- NCI-TCGA Cosmic COSV9905
- cosmic curated COSV99050
- ExAC rs754023417
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.82
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)