R528L (p.Arg528Leu) variant of CACNA1S (Q13698)
R528L (p.Arg528Leu) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CACNA1S-related disorder; Malignant hyperthermia, susceptibility to, 5; Hypokale. 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.
R528L (p.Arg528Leu) variant details
- p.Arg528Leu
- rs80338777
- ClinGen CA35978916
- ClinVar RCV000549801
- ClinVar RCV002293456
- Conflicting interpretations
- CACNA1S-related disorder; Malignant hyperthermia, susceptibility to, 5; Hypokale
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (CACNA1S-related disorder; Malignant hyperthermia, susceptibility)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)