G16D (p.Gly16Asp) variant of GATA4 (Transcription factor GATA-4)
G16D (p.Gly16Asp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- gnomAD 8-11708359-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.57
- CADD 22.60
- PolyPhen-2 0.87
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available