S60* (p.Ser60Ter) variant of KCNMA1 (Q12791)
S60* (p.Ser60Ter) in KCNMA1 (Q12791) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign.
S60* (p.Ser60Ter) variant details
- p.Ser60Ter
- ExAC rs768769748
- TOPMed rs768769748
- gnomAD rs768769748
- Benign
- Stop Gained
- EBI: Benign
- UniProt: Benign