L7R (p.Leu7Arg) variant of CSF1R (P07333)
L7R (p.Leu7Arg) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- 1000Genomes rs577425911
- ExAC rs577425911
- gnomAD rs577425911
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 26.40
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the 1KG:LWK population (allele frequency 0.012)