G31C (p.Gly31Cys) variant of GATA4 (Transcription factor GATA-4)
G31C (p.Gly31Cys) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G31C (p.Gly31Cys) variant details
- p.Gly31Cys
- ExAC rs774778737
- gnomAD rs774778737
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.64
- MetaLR 0.92
- MetaSVM 0.67
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.01
- Population evidence available
- Structural context available