G27D (p.Gly27Asp) variant of TBX20 (T-box transcription factor TBX20)
G27D (p.Gly27Asp) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- ExAC rs752235454
- gnomAD rs752235454
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.47
- CADD 24.60
- PolyPhen-2 0.29
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available