A781E (p.Ala781Glu) variant of CSF1R (P07333)
A781E (p.Ala781Glu) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary diffuse leukoencephalopathy with spheroids. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature.
A781E (p.Ala781Glu) variant details
- p.Ala781Glu
- rs587777247
- ClinGen CA345466
- ClinVar RCV000106405
- UniProt VAR 083145
- Pathogenic
- Hereditary diffuse leukoencephalopathy with spheroids
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Hereditary diffuse leukoencephalopathy with spheroids)
- EBI: Pathogenic (in HDLS1)
- UniProt: Pathogenic (in HDLS1)
- Cited in: Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. (PMID 24336230)
- Cited in: CSF1R-Related Disorder. (PMID 22934315)