I57V (p.Ile57Val) variant of CACNA1S (Q13698)
I57V (p.Ile57Val) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- rs1663048287
- ClinGen CA344156226
- ClinVar RCV001886111
- Ensembl rs1663048287
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.40
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- 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)