C42R (p.Cys42Arg) variant of CSF1R (P07333)
C42R (p.Cys42Arg) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- TOPMed rs1221129051
- gnomAD rs1221129051
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.2e-05)