Y56* (p.Tyr56Ter) variant of NCF4 (Neutrophil cytosol factor 4)
Y56* (p.Tyr56Ter) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Y56* (p.Tyr56Ter) variant details
- p.Tyr56Ter
- gnomAD 22-36864969-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available