R83C (p.Arg83Cys) variant of CSF1R (P07333)
R83C (p.Arg83Cys) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- cosmic curated COSV53838
- ExAC rs753954924
- TOPMed rs753954924
- gnomAD rs753954924
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 23.70
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)