C121G (p.Cys121Gly) variant of KCNMA1 (Q12791)
C121G (p.Cys121Gly) in KCNMA1 (Q12791) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
C121G (p.Cys121Gly) variant details
- p.Cys121Gly
- TOPMed rs1390486916
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance