V70M (p.Val70Met) variant of CACNA1S (Q13698)
V70M (p.Val70Met) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V70M (p.Val70Met) variant details
- p.Val70Met
- rs771706267
- ClinGen CA078801
- ClinVar RCV000436745
- ClinVar RCV001088952
- Conflicting interpretations
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.05
- CADD 21.60
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)