R900S (p.Arg900Ser) variant of CACNA1S (Q13698)
R900S (p.Arg900Ser) 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.
R900S (p.Arg900Ser) variant details
- p.Arg900Ser
- rs2102582533
- ClinGen CA344102465
- ClinVar RCV002025822
- ClinVar RCV002307830
- Pathogenic
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.73
- SIFT 0.01
- EVE 0.22
- ClinVar: Pathogenic (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Structural context available
- Cited in: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID 19118277)
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)