I105S (p.Ile105Ser) variant of CACNA1S (Q13698)
I105S (p.Ile105Ser) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I105S (p.Ile105Ser) variant details
- p.Ile105Ser
- rs780307562
- ClinGen CA079567
- ClinVar RCV002044694
- ClinVar RCV005627436
- Uncertain significance
- not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.98
- CADD 29.00
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Malignant hyperthermia, susceptibility to, 5; Hypo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)