Y2* (p.Tyr2Ter) variant of GATA4 (Transcription factor GATA-4)
Y2* (p.Tyr2Ter) in GATA4 (Transcription factor GATA-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y2* (p.Tyr2Ter) variant details
- p.Tyr2Ter
- gnomAD 8-11708318-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available