G35E (p.Gly35Glu) variant of CSF1R (P07333)
G35E (p.Gly35Glu) 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 0.75 / 1. The record also includes population frequency data.
G35E (p.Gly35Glu) variant details
- p.Gly35Glu
- rs1397361181
- ClinGen CA361737717
- ClinVar RCV002581646
- gnomAD rs1397361181
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)