V70A (p.Val70Ala) variant of CACNA1S (Q13698)
V70A (p.Val70Ala) 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; Malignant hyperthermia, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V70A (p.Val70Ala) variant details
- p.Val70Ala
- rs747599178
- ClinGen CA078806
- ClinVar RCV001206104
- ExAC rs747599178
- Uncertain significance
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.12
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)