E19* (p.Glu19Ter) variant of RB1 (P06400)
E19* (p.Glu19Ter) in RB1 (P06400) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- rs2138027419
- ClinGen CA388250235
- ClinVar RCV002344894
- ClinVar RCV004556852
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 35.00
- 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)