R900G (p.Arg900Gly) variant of CACNA1S (Q13698)
R900G (p.Arg900Gly) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.88 / 1. The record also includes published literature and structural context.
R900G (p.Arg900Gly) variant details
- p.Arg900Gly
- rs1661234855
- ClinGen CA344102494
- ClinVar RCV001217689
- Ensembl rs1661234855
- Uncertain significance
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Variant of uncertain significance (in HOKPP1)
- UniProt: Uncertain significance (in HOKPP1)
- 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)