E19V (p.Glu19Val) variant of GATA4 (Transcription factor GATA-4)
E19V (p.Glu19Val) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- gnomAD 8-11708368-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.73
- CADD 24.70
- PolyPhen-2 0.75
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available