G7D (p.Gly7Asp) variant of TBX5 (T-box transcription factor TBX5)
G7D (p.Gly7Asp) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- ExAC rs751312844
- gnomAD rs751312844
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available