E33* (p.Glu33Ter) variant of BRCA2 (P51587)
E33* (p.Glu33Ter) in BRCA2 (P51587) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- rs397508065
- ClinGen CA026299
- cosmic curated COSV10606
- ClinVar RCV000256555
- Pathogenic
- Stop Gained
- AlphaMissense 0.20
- MetaLR 0.03
- MetaSVM -1.13
- CADD 39.00
- SIFT 0.00
- MutPred 0.36
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)