Y81* (p.Tyr81Ter) variant of NCF2 (Neutrophil cytosol factor 2)
Y81* (p.Tyr81Ter) in NCF2 (Neutrophil cytosol factor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y81* (p.Tyr81Ter) variant details
- p.Tyr81Ter
- ESP rs143178891
- ExAC rs143178891
- TOPMed rs143178891
- gnomAD rs143178891
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 40.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available