R518C (p.Arg518Cys) variant of CACNA1C (Q13936)
R518C (p.Arg518Cys) 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 0.85 / 1. The record also includes population frequency data and published literature.
R518C (p.Arg518Cys) variant details
- p.Arg518Cys
- UniProt VAR 075154
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome 8; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.88
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Long QT syndrome 8; Cardiac arrhythmia)
- EBI: Pathogenic (in TS)
- UniProt: Pathogenic (in TS)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Cited in: Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged… (PMID 26253506)
- Cited in: Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced… (PMID 31430211)