Q3* (p.Gln3Ter) variant of GATA4 (Transcription factor GATA-4)
Q3* (p.Gln3Ter) in GATA4 (Transcription factor GATA-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- cosmic curated COSV10589
- gnomAD rs1446210727
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 45.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available