G589R (p.Gly589Arg) variant of CSF1R (P07333)
G589R (p.Gly589Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature.
G589R (p.Gly589Arg) variant details
- p.Gly589Arg
- rs1757529135
- Ensembl rs1757529135
- ClinGen CA361714182
- ClinVar RCV001249332
- Pathogenic/Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- 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)