E95D (p.Glu95Asp) variant of TBX20 (T-box transcription factor TBX20)
E95D (p.Glu95Asp) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E95D (p.Glu95Asp) variant details
- p.Glu95Asp
- rs755600154
- ExAC rs755600154
- TOPMed rs755600154
- gnomAD rs755600154
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.93
- SIFT 0.35
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available