Y53* (p.Tyr53Ter) variant of NCF4 (Neutrophil cytosol factor 4)
Y53* (p.Tyr53Ter) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y53* (p.Tyr53Ter) variant details
- p.Tyr53Ter
- gnomAD 22-36864960-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 36.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available