L135F (p.Leu135Phe) variant of CSF3R (Q99062)
L135F (p.Leu135Phe) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L135F (p.Leu135Phe) variant details
- p.Leu135Phe
- Ensembl rs1650947071
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.17
- CADD 24.20
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available