S72* (p.Ser72Ter) variant of GATA5 (Transcription factor GATA-5)
S72* (p.Ser72Ter) in GATA5 (Transcription factor GATA-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S72* (p.Ser72Ter) variant details
- p.Ser72Ter
- Ensembl rs1989829039
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 36.00
- Population evidence available
- Structural context available