R897G (p.Arg897Gly) variant of CACNA1S (Q13698)
R897G (p.Arg897Gly) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.84 / 1. The record also includes published literature and structural context.
R897G (p.Arg897Gly) variant details
- p.Arg897Gly
- rs1572039465
- ClinGen CA344102568
- ClinVar RCV000994229
- ClinVar RCV002549855
- Conflicting interpretations
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.47
- ClinVar: Conflicting classifications of pathogenicity (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Likely pathogenic
- UniProt: Likely 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)