G5E (p.Gly5Glu) variant of CSF3R (Q99062)
G5E (p.Gly5Glu) 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 0.24 / 1. The record also includes population frequency data and structural context.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- cosmic curated COSV10523
- 1000Genomes rs528738573
- ExAC rs528738573
- TOPMed rs528738573
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- CADD 7.73
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00038)
- Structural context available