R528C (p.Arg528Cys) variant of CACNA1S (Q13698)
R528C (p.Arg528Cys) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R528C (p.Arg528Cys) variant details
- p.Arg528Cys
- rs80338778
- ClinGen CA078419
- cosmic curated COSV10745
- ClinVar RCV001052970
- Pathogenic/Likely pathogenic
- not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Malignant hyperthermia, susceptibility to, 5; Hypo)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)