D837Y (p.Asp837Tyr) variant of CSF1R (P07333)
D837Y (p.Asp837Tyr) 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 0.98 / 1. The record also includes published literature and structural context.
D837Y (p.Asp837Tyr) variant details
- p.Asp837Tyr
- rs387906662
- ClinGen CA259666
- ClinVar RCV000022688
- UniProt VAR 067406
- Pathogenic
- Hereditary diffuse leukoencephalopathy with spheroids
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- 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)
- Structural context available
- Cited in: Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with… (PMID 22197934)
- Cited in: CSF1R-Related Disorder. (PMID 22934315)