R111* (p.Arg111Ter) variant of GATA5 (Transcription factor GATA-5)
R111* (p.Arg111Ter) in GATA5 (Transcription factor GATA-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R111* (p.Arg111Ter) variant details
- p.Arg111Ter
- TOPMed rs1989823484
- gnomAD rs1989823484
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available