C26W (p.Cys26Trp) variant of CSF3R (Q99062)
C26W (p.Cys26Trp) in CSF3R (Q99062) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
C26W (p.Cys26Trp) variant details
- p.Cys26Trp
- ExAC rs767458386
- TOPMed rs767458386
- gnomAD rs767458386
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.59
- CADD 13.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available