K42* (p.Lys42Ter) variant of CACNA1S (Q13698)
K42* (p.Lys42Ter) in CACNA1S (Q13698) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
K42* (p.Lys42Ter) variant details
- p.Lys42Ter
- rs1553254275
- ClinGen CA344157756
- ClinVar RCV003787594
- ClinVar RCV006264146
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 56.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)