E19Q (p.Glu19Gln) variant of PALB2 (Partner and localizer of BRCA2)
E19Q (p.Glu19Gln) 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.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- Ensembl rs2142461160
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available