E119K (p.Glu119Lys) variant of TBX20 (T-box transcription factor TBX20)
E119K (p.Glu119Lys) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
E119K (p.Glu119Lys) variant details
- p.Glu119Lys
- rs2546997293
- ClinGen CA367264936
- ClinVar RCV003067419
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.94
- CADD 28.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available