R1086C (p.Arg1086Cys) variant of CACNA1S (Q13698)
R1086C (p.Arg1086Cys) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital myopathy 18; Hypokalemic periodic paralysis, type 1; Thyrotoxic perio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1086C (p.Arg1086Cys) variant details
- p.Arg1086Cys
- rs80338782
- ClinGen CA004040
- ClinVar RCV000148445
- ClinVar RCV000540523
- Conflicting interpretations
- Congenital myopathy 18; Hypokalemic periodic paralysis, type 1; Thyrotoxic perio
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital myopathy 18; Hypokalemic periodic paralysis, type 1;)
- EBI: Likely pathogenic (in MHS5)
- UniProt: Likely pathogenic (in MHS5)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)