E46E (p.Glu46Glu) variant of NCF1 (Neutrophil cytosol factor 1)
E46E (p.Glu46Glu) in NCF1 (Neutrophil cytosol factor 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E46E (p.Glu46Glu) variant details
- p.Glu46Glu
- rs1252865340
- gnomAD 7-74777332-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 4.88
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.185
- Literature evidence available