C131R (p.Cys131Arg) variant of CSF3R (Q99062)
C131R (p.Cys131Arg) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C131R (p.Cys131Arg) variant details
- p.Cys131Arg
- gnomAD rs1391986128
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.86
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available