L31F (p.Leu31Phe) variant of CACNA1S (Q13698)
L31F (p.Leu31Phe) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- rs556751671
- 1000Genomes rs556751671
- ExAC rs556751671
- TOPMed rs556751671
- Conflicting interpretations
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.55
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)