E19D (p.Glu19Asp) variant of GATA4 (Transcription factor GATA-4)
E19D (p.Glu19Asp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 8-11708369-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.36
- CADD 16.10
- PolyPhen-2 0.75
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available