I47T (p.Ile47Thr) variant of CACNA1S (Q13698)
I47T (p.Ile47Thr) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I47T (p.Ile47Thr) variant details
- p.Ile47Thr
- rs372497364
- ClinGen CA36018221
- ClinVar RCV001899114
- 1000Genomes rs372497364
- Likely benign
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.70
- CADD 24.70
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Likely benign (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.006)
- 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)