E27K (p.Glu27Lys) variant of BARD1 (Q99728)
E27K (p.Glu27Lys) in BARD1 (Q99728) 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
- cosmic curated COSV53608
- ExAC rs587780037
- TOPMed rs587780037
- gnomAD rs587780037
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available