Y82* (p.Tyr82Ter) variant of NCF2 (Neutrophil cytosol factor 2)
Y82* (p.Tyr82Ter) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y82* (p.Tyr82Ter) variant details
- p.Tyr82Ter
- rs2528021632
- ClinGen CA343683020
- ClinVar RCV003605052
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)