R1086S (p.Arg1086Ser) variant of CACNA1S (Q13698)
R1086S (p.Arg1086Ser) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Malignant hyperthermia, susceptibility to, 5; Congenital myopathy 18; Hypokalemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1086S (p.Arg1086Ser) variant details
- p.Arg1086Ser
- rs80338782
- ClinGen CA004036
- ClinVar RCV000144372
- ClinVar RCV004017419
- Likely pathogenic
- Malignant hyperthermia, susceptibility to, 5; Congenital myopathy 18; Hypokalemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Malignant hyperthermia, susceptibility to, 5; Congenital myopath)
- EBI: Likely pathogenic (in MHS5)
- UniProt: Likely pathogenic (in MHS5)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)