W10* (p.Trp10Ter) variant of NCF2 (Neutrophil cytosol factor 2)
W10* (p.Trp10Ter) in NCF2 (Neutrophil cytosol factor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs2102942512
- ClinGen CA343685252
- ClinVar RCV001909878
- Ensembl rs2102942512
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.52
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)