Y48* (p.Tyr48Ter) variant of NCF1 (Neutrophil cytosol factor 1)
Y48* (p.Tyr48Ter) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y48* (p.Tyr48Ter) variant details
- p.Tyr48Ter
- gnomAD 7-74777337-AC-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 23.30
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.171
- Literature evidence available