S46G (p.Ser46Gly) variant of CACNA1S (Q13698)
S46G (p.Ser46Gly) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S46G (p.Ser46Gly) variant details
- p.Ser46Gly
- rs773923999
- ClinGen CA344157633
- ClinVar RCV004013089
- ClinVar RCV005220831
- Conflicting interpretations
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.16
- CADD 19.00
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)