R41L (p.Arg41Leu) variant of CSF1R (P07333)
R41L (p.Arg41Leu) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- ExAC rs777239066
- TOPMed rs777239066
- gnomAD rs777239066
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 15.60
- PolyPhen-2 0.16
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)