A69G (p.Ala69Gly) variant of CACNA1S (Q13698)
A69G (p.Ala69Gly) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A69G (p.Ala69Gly) variant details
- p.Ala69Gly
- rs12406479
- ClinGen CA078793
- cosmic curated COSV62939
- ClinVar RCV000249964
- Benign
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 0.82
- SIFT 0.25
- ClinVar: Benign (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Benign (in dbSNP:rs12406479)
- UniProt: Benign (in dbSNP:rs12406479)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.14)
- 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)