E15* (p.Glu15Ter) variant of RAD51D (O75771)
E15* (p.Glu15Ter) in RAD51D (O75771) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- rs775510420
- ClinGen CA399092456
- ClinVar RCV004439951
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available