I794T (p.Ile794Thr) variant of CSF1R (P07333)
I794T (p.Ile794Thr) 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; Heredit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
I794T (p.Ile794Thr) variant details
- p.Ile794Thr
- rs281860274
- ClinGen CA342709
- ClinVar RCV000022687
- ClinVar RCV001090375
- Pathogenic/Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided; Heredit
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 28.30
- 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)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with… (PMID 22197934)
- Cited in: Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. (PMID 24336230)