Y18* (p.Tyr18Ter) variant of GATA4 (Transcription factor GATA-4)
Y18* (p.Tyr18Ter) in GATA4 (Transcription factor GATA-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y18* (p.Tyr18Ter) variant details
- p.Tyr18Ter
- rs1799991762
- ClinGen CA370308651
- ClinVar RCV001907365
- TOPMed rs1799991762
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available