E7D (p.Glu7Asp) variant of BRCA2 (P51587)
E7D (p.Glu7Asp) 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 and published literature.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs1593880678
- ClinGen CA387752960
- ClinVar RCV001898283
- Ensembl rs1593880678
- Likely benign
- Missense
- AlphaMissense 0.17
- MetaLR 0.00
- MetaSVM -0.88
- SIFT 0.01
- MutPred 0.13
- EBI: Likely benign
- UniProt: Likely benign
- 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)