E13Q (p.Glu13Gln) variant of BRCA2 (P51587)
E13Q (p.Glu13Gln) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- TOPMed rs80358622
- Pathogenic
- Missense
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic