R1086G (p.Arg1086Gly) variant of CACNA1S (Q13698)
R1086G (p.Arg1086Gly) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic periodic paraly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R1086G (p.Arg1086Gly) variant details
- p.Arg1086Gly
- rs80338782
- ClinGen CA079623
- ClinVar RCV001204398
- ClinVar RCV002480665
- Uncertain significance
- Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic periodic paraly
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic)
- EBI: Likely pathogenic (in MHS5)
- UniProt: Likely pathogenic (in MHS5)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)