E7K (p.Glu7Lys) variant of BRCA2 (P51587)
E7K (p.Glu7Lys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs2072261094
- ClinGen CA387752946
- cosmic curated COSV61526
- ClinVar RCV002043031
- Uncertain significance
- Missense
- AlphaMissense 0.11
- MetaLR 0.00
- MetaSVM -0.92
- SIFT 0.40
- MutPred 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)