E49* (p.Glu49Ter) variant of CSF1R (P07333)
E49* (p.Glu49Ter) in CSF1R (P07333) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- ExAC rs745585475
- TOPMed rs745585475
- gnomAD rs745585475
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)