R528H (p.Arg528His) variant of CACNA1S (Q13698)
R528H (p.Arg528His) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Malignant hyperthermia, susceptibility to, 5; Congenital myopathy 18; Thyrotoxic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R528H (p.Arg528His) variant details
- p.Arg528His
- rs80338777
- ClinGen CA004021
- cosmic curated COSV10467
- ClinVar RCV000019192
- Pathogenic
- Malignant hyperthermia, susceptibility to, 5; Congenital myopathy 18; Thyrotoxic
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.96
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Malignant hyperthermia, susceptibility to, 5; Congenital myopath)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic… (PMID 10074484)
- Cited in: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. (PMID 18162704)