S62C (p.Ser62Cys) variant of CSF1R (P07333)
S62C (p.Ser62Cys) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
S62C (p.Ser62Cys) variant details
- p.Ser62Cys
- ExAC rs765380617
- gnomAD rs765380617
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 13.60
- PolyPhen-2 0.87
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)