E116G (p.Glu116Gly) variant of CSF3R (Q99062)
E116G (p.Glu116Gly) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E116G (p.Glu116Gly) variant details
- p.Glu116Gly
- ExAC rs771566058
- gnomAD rs771566058
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.62
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available