E24Q (p.Glu24Gln) variant of CSF1R (P07333)
E24Q (p.Glu24Gln) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, 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.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- rs1758517587
- ClinGen CA361737936
- ClinVar RCV003665458
- Ensembl rs1758517587
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)