N38K (p.Asn38Lys) variant of CACNA1S (Q13698)
N38K (p.Asn38Lys) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Malignant hyperthermia, susceptibility to, 5; Hypokalem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- rs756619964
- ClinGen CA077975
- ClinVar RCV001307108
- ClinVar RCV004005041
- Uncertain significance
- Inborn genetic diseases; Malignant hyperthermia, susceptibility to, 5; Hypokalem
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.70
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Malignant hyperthermia, susceptibility)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)