E19* (p.Glu19Ter) variant of NF1 (Neurofibromin)
E19* (p.Glu19Ter) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- rs786203307
- ClinGen CA196174
- ClinVar RCV000166554
- ClinVar RCV000554192
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.3e-05)
- 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: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)