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 uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 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
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.18
- MetaLR 0.55
- MetaSVM -0.05
- PolyPhen-2 0.84
- SIFT 0.10
- EVE 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.712
- 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)