V66A (p.Val66Ala) variant of CACNA1S (Q13698)
V66A (p.Val66Ala) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V66A (p.Val66Ala) variant details
- p.Val66Ala
- rs1663046954
- ClinGen CA344156057
- ClinVar RCV001324361
- ClinVar RCV004005122
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.64
- CADD 24.90
- PolyPhen-2 0.85
- SIFT 0.07
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)