Q114* (p.Gln114Ter) variant of CSF3R (Q99062)
Q114* (p.Gln114Ter) 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 0.87 / 1. The record also includes population frequency data and structural context.
Q114* (p.Gln114Ter) variant details
- p.Gln114Ter
- rs756667927
- ClinGen CA20751668
- ClinVar RCV001003788
- ClinVar RCV001225134
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available