I35L (p.Ile35Leu) variant of CSF3R (Q99062)
I35L (p.Ile35Leu) in CSF3R (Q99062) 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 0.13 / 1. The record also includes population frequency data and structural context.
I35L (p.Ile35Leu) variant details
- p.Ile35Leu
- ExAC rs755370892
- TOPMed rs755370892
- gnomAD rs755370892
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.12
- CADD 13.10
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available