E19G (p.Glu19Gly) variant of GATA4 (Transcription factor GATA-4)
E19G (p.Glu19Gly) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD 8-11708368-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available