L11R (p.Leu11Arg) variant of CACNA1S (Q13698)
L11R (p.Leu11Arg) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- rs1420388292
- ClinGen CA344158674
- ClinVar RCV003217186
- ClinVar RCV003779707
- Conflicting interpretations
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.38
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.6e-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)