G4E (p.Gly4Glu) variant of BRCA2 (P51587)
G4E (p.Gly4Glu) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- rs587782137
- ClinGen CA011142
- ClinVar RCV000130687
- ClinVar RCV000537170
- Likely benign
- Missense
- REVEL 0.09
- CADD 22.30
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)