R1239C (p.Arg1239Cys) variant of CACNA1S (Q13698)
R1239C (p.Arg1239Cys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1239C (p.Arg1239Cys) variant details
- p.Arg1239Cys
- rs28930069
- ClinGen CA344154758
- ClinVar RCV003080081
- ClinVar RCV004009412
- Conflicting interpretations
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)