R777Q (p.Arg777Gln) variant of CSF1R (P07333)
R777Q (p.Arg777Gln) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1; CSF1R-related disorde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
R777Q (p.Arg777Gln) variant details
- p.Arg777Gln
- rs690016548
- ClinGen CA346069
- ClinVar RCV000149523
- ClinVar RCV001850025
- Pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1; CSF1R-related disorde
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1; CSF1R)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: CSF1R-Related Disorder. (PMID 22934315)
- Cited in: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on… (PMID 29122458)