K793E (p.Lys793Glu) variant of CSF1R (P07333)
K793E (p.Lys793Glu) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1. The record also includes published literature.
K793E (p.Lys793Glu) variant details
- p.Lys793Glu
- rs2480950041
- ClinGen CA361758918
- ClinVar RCV003326726
- Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1
- Missense
- ClinVar: Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: CSF1R-Related Disorder. (PMID 22934315)