W51* (p.Trp51Ter) variant of SPI1 (Transcription factor PU.1)
W51* (p.Trp51Ter) in SPI1 (Transcription factor PU.1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
W51* (p.Trp51Ter) variant details
- p.Trp51Ter
- cosmic curated COSV57044
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.893
- CADD 41.00
- Population evidence available
- Structural context available