N79K (p.Asn79Lys) variant of CACNA1S (Q13698)
N79K (p.Asn79Lys) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N79K (p.Asn79Lys) variant details
- p.Asn79Lys
- rs150180227
- ClinGen CA078966
- ClinVar RCV002766440
- ESP rs150180227
- Likely benign
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Likely benign (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)