I35F (p.Ile35Phe) variant of CSF3R (Q99062)
I35F (p.Ile35Phe) 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 0.26 / 1. The record also includes population frequency data and structural context.
I35F (p.Ile35Phe) variant details
- p.Ile35Phe
- ExAC rs755370892
- TOPMed rs755370892
- gnomAD rs755370892
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.33
- CADD 13.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available