E33Q (p.Glu33Gln) variant of BRCA2 (P51587)
E33Q (p.Glu33Gln) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- Ensembl rs397508065
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic