G31D (p.Gly31Asp) variant of GATA4 (Transcription factor GATA-4)
G31D (p.Gly31Asp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- gnomAD 8-11708404-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.59
- CADD 19.80
- PolyPhen-2 0.40
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available