G93D (p.Gly93Asp) variant of TBX5 (T-box transcription factor TBX5)
G93D (p.Gly93Asp) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G93D (p.Gly93Asp) variant details
- p.Gly93Asp
- TOPMed rs890394778
- gnomAD rs890394778
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available