W11* (p.Trp11Ter) variant of CSF3R (Q99062)
W11* (p.Trp11Ter) in CSF3R (Q99062) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- rs2124152665
- ClinGen CA339425348
- ClinVar RCV001382169
- Ensembl rs2124152665
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 24.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available