E13* (p.Glu13Ter) variant of SOX9 (Transcription factor SOX-9)
E13* (p.Glu13Ter) in SOX9 (Transcription factor SOX-9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- TOPMed rs1478425968
- gnomAD rs1478425968
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 37.00
- Population evidence available
- Structural context available