E633K (p.Glu633Lys) variant of CSF1R (P07333)
E633K (p.Glu633Lys) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
E633K (p.Glu633Lys) variant details
- p.Glu633Lys
- rs281860269
- ClinGen CA342706
- NCI-TCGA Cosmic COSV5384
- ClinVar RCV000022685
- Pathogenic/Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1; not p)
- EBI: Pathogenic (in HDLS1)
- UniProt: Pathogenic (in HDLS1)
- Population evidence available
- Cited in: Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. (PMID 16523341)
- Cited in: Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with… (PMID 22197934)