E86Q (p.Glu86Gln) variant of CSF1R (P07333)
E86Q (p.Glu86Gln) in CSF1R (P07333) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
E86Q (p.Glu86Gln) variant details
- p.Glu86Gln
- ExAC rs775908212
- TOPMed rs775908212
- gnomAD rs775908212
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 18.80
- PolyPhen-2 0.83
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)