C46R (p.Cys46Arg) variant of CSF3R (Q99062)
C46R (p.Cys46Arg) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C46R (p.Cys46Arg) variant details
- p.Cys46Arg
- TOPMed rs1408834439
- gnomAD rs1408834439
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.92
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available