E31* (p.Glu31Ter) variant of GATA6 (Transcription factor GATA-6)
E31* (p.Glu31Ter) in GATA6 (Transcription factor GATA-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- gnomAD 18-22171235-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available