E27Q (p.Glu27Gln) variant of PALB2 (Partner and localizer of BRCA2)
E27Q (p.Glu27Gln) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- TOPMed rs878855122
- gnomAD rs878855122
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available