T55M (p.Thr55Met) variant of CACNA1S (Q13698)
T55M (p.Thr55Met) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T55M (p.Thr55Met) variant details
- p.Thr55Met
- rs549107212
- ClinGen CA078498
- NCI-TCGA Cosmic COSV6294
- cosmic curated COSV62940
- Conflicting interpretations
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.07
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)