P824L (p.Pro824Leu) variant of CSF1R (P07333)
P824L (p.Pro824Leu) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P824L (p.Pro824Leu) variant details
- p.Pro824Leu
- rs1757203198
- ClinGen CA361758560
- ClinVar RCV003321454
- ClinVar RCV005412541
- Pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.91
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1)
- EBI: Pathogenic (in HDLS1)
- UniProt: Pathogenic (in HDLS1)
- Structural context available
- Cited in: CSF1R-Related Disorder. (PMID 22934315)