L18Q (p.Leu18Gln) variant of CSF3R (Q99062)
L18Q (p.Leu18Gln) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- ExAC rs762994036
- gnomAD rs762994036
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.26
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available