A823V (p.Ala823Val) variant of CSF1R (P07333)
A823V (p.Ala823Val) 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 0.96 / 1. The record also includes published literature and structural context.
A823V (p.Ala823Val) variant details
- p.Ala823Val
- rs690016562
- ClinGen CA346098
- ClinVar RCV000149538
- Ensembl rs690016562
- Pathogenic
- Hereditary diffuse leukoencephalopathy with spheroids
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Hereditary diffuse leukoencephalopathy with spheroids)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- 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)