E7Q (p.Glu7Gln) variant of BRCA2 (P51587)
E7Q (p.Glu7Gln) 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.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- TOPMed rs2072261094
- Uncertain significance
- Missense
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance