R518H (p.Arg518His) variant of CACNA1C (Q13936)
R518H (p.Arg518His) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Long QT syndrome 8; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
R518H (p.Arg518His) variant details
- p.Arg518His
- UniProt VAR 075155
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome 8; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Long QT syndrome 8; Cardiac arrhythmia)
- EBI: Pathogenic (in TS)
- UniProt: Pathogenic (in TS)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Cited in: Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged… (PMID 26253506)
- Cited in: Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. (PMID 15454078)