Q18E (p.Gln18Glu) variant of CSF1R (P07333)
Q18E (p.Gln18Glu) in CSF1R (P07333) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- TOPMed rs1758518163
- gnomAD rs1758518163
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 11.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)