S5L (p.Ser5Leu) variant of CACNA1S (Q13698)
S5L (p.Ser5Leu) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myopathy 18; Hypokalemic periodic paralysis, type 1; Thyrotoxic perio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- rs772738139
- ClinGen CA078271
- ClinVar RCV001221566
- ClinVar RCV002491692
- Uncertain significance
- Congenital myopathy 18; Hypokalemic periodic paralysis, type 1; Thyrotoxic perio
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Congenital myopathy 18; Hypokalemic periodic paralysis, type 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)