R83L (p.Arg83Leu) variant of CSF1R (P07333)
R83L (p.Arg83Leu) 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 0.11 / 1. The record also includes population frequency data.
R83L (p.Arg83Leu) variant details
- p.Arg83Leu
- ExAC rs761230419
- TOPMed rs761230419
- gnomAD rs761230419
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 7.23
- PolyPhen-2 0.36
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)