L10* (p.Leu10Ter) variant of GATA6 (Transcription factor GATA-6)
L10* (p.Leu10Ter) in GATA6 (Transcription factor GATA-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L10* (p.Leu10Ter) variant details
- p.Leu10Ter
- gnomAD 18-22171173-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available