E10* (p.Glu10Ter) variant of PRRT2 (Q7Z6L0)
E10* (p.Glu10Ter) in PRRT2 (Q7Z6L0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- rs1900057283
- ClinGen CA1139664638
- ClinVar RCV001092087
- ClinVar RCV003594091
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available