S36* (p.Ser36Ter) variant of NCF1 (Neutrophil cytosol factor 1)
S36* (p.Ser36Ter) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S36* (p.Ser36Ter) variant details
- p.Ser36Ter
- TOPMed rs1554413130
- gnomAD rs1554413130
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 35.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.772