V130D (p.Val130Asp) variant of CACNA1S (Q13698)
V130D (p.Val130Asp) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t. The record also includes structural context.
V130D (p.Val130Asp) variant details
- p.Val130Asp
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Pathogenic
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- ClinVar: Pathogenic (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- UniProt: Pathogenic
- Structural context available