R118C (p.Arg118Cys) variant of CSF3R (Q99062)
R118C (p.Arg118Cys) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R118C (p.Arg118Cys) variant details
- p.Arg118Cys
- cosmic curated COSV58971
- TOPMed rs928090621
- gnomAD rs928090621
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.28
- CADD 26.50
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available