A63V (p.Ala63Val) variant of CACNA1S (Q13698)
A63V (p.Ala63Val) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty. The record also includes structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- Ensembl rs769486088
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- UniProt: Uncertain significance
- Structural context available