K58* (p.Lys58Ter) variant of NCF2 (Neutrophil cytosol factor 2)
K58* (p.Lys58Ter) in NCF2 (Neutrophil cytosol factor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CGD2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K58* (p.Lys58Ter) variant details
- p.Lys58Ter
- rs898012170
- ClinGen CA33992939
- ClinVar RCV003603318
- TOPMed rs898012170
- Pathogenic
- in CGD2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 40.00
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.614
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)