S25* (p.Ser25Ter) variant of FKRP (Q9H9S5)
S25* (p.Ser25Ter) in FKRP (Q9H9S5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
S25* (p.Ser25Ter) variant details
- p.Ser25Ter
- rs766339195
- ClinVar RCV000226653
- ExAC rs766339195
- TOPMed rs766339195
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available