T75S (p.Thr75Ser) variant of CSF1R (P07333)
T75S (p.Thr75Ser) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
T75S (p.Thr75Ser) variant details
- p.Thr75Ser
- TOPMed rs1325333723
- gnomAD rs1325333723
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 14.70
- PolyPhen-2 0.34
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)