G591E (p.Gly591Glu) variant of CSF1R (P07333)
G591E (p.Gly591Glu) 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; Hereditary diffuse le. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature.
G591E (p.Gly591Glu) variant details
- p.Gly591Glu
- rs1757528753
- ClinGen CA361714168
- ClinVar RCV001261535
- ClinVar RCV003393930
- Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1; Hereditary diffuse le
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1; Hered)
- EBI: Likely pathogenic
- UniProt: Likely 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)