R897K (p.Arg897Lys) variant of CACNA1S (Q13698)
R897K (p.Arg897Lys) 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; Hypokalemic periodic paralysis, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
R897K (p.Arg897Lys) variant details
- p.Arg897Lys
- rs1287079817
- ClinGen CA344102557
- ClinVar RCV000545029
- gnomAD rs1287079817
- Pathogenic
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.62
- MetaLR 0.94
- MetaSVM 1.12
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)