R1239G (p.Arg1239Gly) variant of CACNA1S (Q13698)
R1239G (p.Arg1239Gly) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R1239G (p.Arg1239Gly) variant details
- p.Arg1239Gly
- rs28930069
- ClinGen CA004048
- ClinVar RCV000019191
- ClinVar RCV000518061
- Pathogenic
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Population evidence available
- Structural context available
- Cited in: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. (PMID 18162704)
- Cited in: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID 19118277)