V66M (p.Val66Met) variant of CACNA1S (Q13698)
V66M (p.Val66Met) 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 published literature and structural context.
V66M (p.Val66Met) variant details
- p.Val66Met
- rs886045803
- ClinGen CA10609408
- ClinVar RCV000346607
- Ensembl rs886045803
- Uncertain significance
- Hypokalemic periodic paralysis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.21
- MetaLR 0.51
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.39
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)