Q20* (p.Gln20Ter) variant of NF1 (Neurofibromin)
Q20* (p.Gln20Ter) in NF1 (Neurofibromin) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- rs1567786905
- ClinGen CA398979432
- ClinVar RCV000698970
- ClinVar RCV002352176
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 45.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)