S47R (p.Ser47Arg) variant of CSF1R (P07333)
S47R (p.Ser47Arg) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- rs771756926
- ExAC rs771756926
- TOPMed rs771756926
- gnomAD rs771756926
- Uncertain significance
- Leukoencephalopathy, diffuse hereditary, with spheroids 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 7.19
- PolyPhen-2 0.80
- SIFT 0.21
- ClinVar: Uncertain significance (Leukoencephalopathy, diffuse hereditary, with spheroids 1; not p)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Cited in: CSF1R-Related Disorder. (PMID 22934315)