L6V (p.Leu6Val) variant of CSF1R (P07333)
L6V (p.Leu6Val) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- 1000Genomes rs544580321
- gnomAD rs544580321
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 20.80
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)