I47N (p.Ile47Asn) variant of CACNA1S (Q13698)
I47N (p.Ile47Asn) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I47N (p.Ile47Asn) variant details
- p.Ile47Asn
- rs372497364
- ClinGen CA078231
- ClinVar RCV001245317
- ClinVar RCV005532899
- Conflicting interpretations
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.74
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- 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)