C26* (p.Cys26Ter) variant of CSF3R (Q99062)
C26* (p.Cys26Ter) 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 0.26 / 1. The record also includes population frequency data and structural context.
C26* (p.Cys26Ter) variant details
- p.Cys26Ter
- rs767458386
- ClinGen CA339425239
- ClinVar RCV001933386
- ExAC rs767458386
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available