G10S (p.Gly10Ser) variant of CACNA1S (Q13698)
G10S (p.Gly10Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs371905958
- ClinGen CA079364
- ClinVar RCV004015759
- ClinVar RCV004801433
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.21
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)