A69V (p.Ala69Val) variant of CACNA1S (Q13698)
A69V (p.Ala69Val) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs12406479
- ClinGen CA344155985
- ClinVar RCV001100107
- ClinVar RCV003769064
- Uncertain significance
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.78
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Benign (in dbSNP:rs12406479)
- UniProt: Benign (in dbSNP:rs12406479)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)