P73S (p.Pro73Ser) variant of CACNA1S (Q13698)
P73S (p.Pro73Ser) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 5. The record also includes published literature and structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- rs2464691516
- ClinGen CA344155923
- ClinVar RCV004016798
- NCI-TCGA Cosmic COSV6293
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)
- Cited in: Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the… (PMID 33131754)