G73R (p.Gly73Arg) variant of CSF3R (Q99062)
G73R (p.Gly73Arg) in CSF3R (Q99062) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- 1000Genomes rs532250805
- ExAC rs532250805
- TOPMed rs532250805
- gnomAD rs532250805
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.29
- CADD 16.90
- PolyPhen-2 0.46
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available