C52G (p.Cys52Gly) variant of CSF3R (Q99062)
C52G (p.Cys52Gly) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C52G (p.Cys52Gly) variant details
- p.Cys52Gly
- cosmic curated COSV58974
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.66
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available