Q75* (p.Gln75Ter) variant of CSF3R (Q99062)
Q75* (p.Gln75Ter) in CSF3R (Q99062) 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.
Q75* (p.Gln75Ter) variant details
- p.Gln75Ter
- cosmic curated COSV58968
- ExAC rs765040045
- gnomAD rs765040045
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available