E54D (p.Glu54Asp) variant of CACNA1S (Q13698)
E54D (p.Glu54Asp) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic periodic paraly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- rs569061608
- ClinGen CA078492
- ClinVar RCV001054828
- ClinVar RCV002481993
- Uncertain significance
- Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic periodic paraly
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.47
- CADD 22.60
- PolyPhen-2 0.82
- SIFT 0.59
- ClinVar: Uncertain significance (Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)