Y923C (p.Tyr923Cys) variant of CSF1R (P07333)
Y923C (p.Tyr923Cys) 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 and structural context.
Y923C (p.Tyr923Cys) variant details
- p.Tyr923Cys
- rs2480936022
- ClinGen CA361756342
- ClinVar RCV003334444
- Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1
- Missense
- ClinVar: Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CSF1R-Related Disorder. (PMID 22934315)