E9* (p.Glu9Ter) variant of BRCA1 (P38398)
E9* (p.Glu9Ter) in BRCA1 (P38398) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements, published literature, and structural context.
E9* (p.Glu9Ter) variant details
- p.Glu9Ter
- rs1567823437
- ClinGen CA10602113
- ClinVar RCV001077656
- Ensembl rs1567823437
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.554
- MetaLR 0.55
- MetaSVM -0.05
- CADD 22.20
- EVE 0.70
- MutPred 0.47
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 Y2H: score -0.796
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)