F828S (p.Phe828Ser) variant of CSF1R (P07333)
F828S (p.Phe828Ser) 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 0.65 / 1. The record also includes published literature.
F828S (p.Phe828Ser) variant details
- p.Phe828Ser
- rs397515557
- ClinGen CA345026
- ClinVar RCV000055912
- Ensembl rs397515557
- Pathogenic
- Hereditary diffuse leukoencephalopathy with spheroids
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.86
- MetaLR 0.51
- MetaSVM 0.12
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.98
- ClinVar: Pathogenic (Hereditary diffuse leukoencephalopathy with spheroids)
- 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)