S61* (p.Ser61Ter) variant of PRRT2 (Q7Z6L0)
S61* (p.Ser61Ter) in PRRT2 (Q7Z6L0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S61* (p.Ser61Ter) variant details
- p.Ser61Ter
- rs2142422901
- ClinGen CA395477579
- ClinVar RCV001726990
- Ensembl rs2142422901
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available