E27K (p.Glu27Lys) variant of PALB2 (Partner and localizer of BRCA2)
E27K (p.Glu27Lys) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- TOPMed rs878855122
- gnomAD rs878855122
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available