A63S (p.Ala63Ser) variant of CACNA1S (Q13698)
A63S (p.Ala63Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A63S (p.Ala63Ser) variant details
- p.Ala63Ser
- rs886045804
- ClinGen CA10609409
- ClinVar RCV000397333
- Ensembl rs886045804
- Uncertain significance
- Hypokalemic periodic paralysis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.29
- CADD 25.90
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)