C46F (p.Cys46Phe) variant of CSF3R (Q99062)
C46F (p.Cys46Phe) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C46F (p.Cys46Phe) variant details
- p.Cys46Phe
- gnomAD rs1370699677
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available