P818H (p.Pro818His) variant of CSF1R (P07333)
P818H (p.Pro818His) in CSF1R (P07333) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1.
P818H (p.Pro818His) variant details
- p.Pro818His
- Ensembl rs2113778750
- Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1
- Missense
- ClinVar: Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1)
- UniProt: Likely pathogenic