R782C (p.Arg782Cys) variant of CSF1R (P07333)
R782C (p.Arg782Cys) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided; CSF1R-r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature.
R782C (p.Arg782Cys) variant details
- p.Arg782Cys
- rs2113779576
- ClinGen CA361759008
- ClinVar RCV001724744
- ClinVar RCV002290740
- Pathogenic/Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided; CSF1R-r
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1; not p)
- EBI: Pathogenic (in HDLS1)
- UniProt: Pathogenic (in HDLS1)
- 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)