R782H (p.Arg782His) variant of CSF1R (P07333)
R782H (p.Arg782His) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature.
R782H (p.Arg782His) variant details
- p.Arg782His
- rs281860281
- ClinGen CA343014
- ClinVar RCV000031932
- ClinVar RCV001561353
- Pathogenic/Likely pathogenic
- Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Brain abnormalities, neurodegeneration, and dysosteosclerosis; L)
- EBI: Pathogenic (in HDLS1)
- UniProt: Pathogenic (in HDLS1)
- Cited in: CSF1R mutations link POLD and HDLS as a single disease entity. (PMID 23408870)
- Cited in: Progressive familial leukodystrophy of late onset. (PMID 8614507)