E67* (p.Glu67Ter) variant of SPI1 (Transcription factor PU.1)
E67* (p.Glu67Ter) in SPI1 (Transcription factor PU.1) 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.
E67* (p.Glu67Ter) variant details
- p.Glu67Ter
- cosmic curated COSV57047
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- Population evidence available
- Structural context available