E54K (p.Glu54Lys) variant of CACNA1S (Q13698)
E54K (p.Glu54Lys) 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 0.65 / 1. The record also includes published literature and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs1553254121
- NCI-TCGA Cosmic COSV6293
- cosmic curated COSV62939
- Uncertain significance
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.52
- MetaLR 0.68
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)