L5* (p.Leu5Ter) variant of GATA4 (Transcription factor GATA-4)
L5* (p.Leu5Ter) in GATA4 (Transcription factor GATA-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L5* (p.Leu5Ter) variant details
- p.Leu5Ter
- gnomAD 8-11708326-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available