S58* (p.Ser58Ter) variant of KCNMA1 (Q12791)
S58* (p.Ser58Ter) in KCNMA1 (Q12791) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance.
S58* (p.Ser58Ter) variant details
- p.Ser58Ter
- ExAC rs776719617
- TOPMed rs776719617
- gnomAD rs776719617
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance