P39L (p.Pro39Leu) variant of CACNA1S (Q13698)
P39L (p.Pro39Leu) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs1663146674
- ClinGen CA344157834
- ClinVar RCV001313085
- Ensembl rs1663146674
- Uncertain significance
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.62
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- 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)