R33E (p.Arg33Glu) variant of NCF4 (Neutrophil cytosol factor 4)
R33E (p.Arg33Glu) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R33E (p.Arg33Glu) variant details
- p.Arg33Glu
- gnomAD 22-36864103-G-GAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.816
- CADD 30.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available