F849I (p.Phe849Ile) variant of CSF1R (P07333)
F849I (p.Phe849Ile) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brain abnormalities, neurodegeneration, and dysosteosclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1.
F849I (p.Phe849Ile) variant details
- p.Phe849Ile
- rs1757197459
- ClinVar RCV004587855
- TOPMed rs1757197459
- Likely pathogenic
- Brain abnormalities, neurodegeneration, and dysosteosclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Brain abnormalities, neurodegeneration, and dysosteosclerosis)
- EBI: Likely pathogenic (in HDLS1)
- UniProt: Likely pathogenic (in HDLS1)