S81A (p.Ser81Ala) variant of CACNA1S (Q13698)
S81A (p.Ser81Ala) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S81A (p.Ser81Ala) variant details
- p.Ser81Ala
- rs1396542342
- ClinGen CA344155704
- ClinVar RCV004010027
- gnomAD rs1396542342
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.22
- CADD 5.26
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)