G73C (p.Gly73Cys) variant of CSF3R (Q99062)
G73C (p.Gly73Cys) 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 0.32 / 1. The record also includes population frequency data and structural context.
G73C (p.Gly73Cys) variant details
- p.Gly73Cys
- 1000Genomes rs532250805
- ExAC rs532250805
- TOPMed rs532250805
- gnomAD rs532250805
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.27
- CADD 21.80
- PolyPhen-2 0.74
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available