R858H (p.Arg858His) variant of CACNA1C (Q13936)
R858H (p.Arg858His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
R858H (p.Arg858His) variant details
- p.Arg858His
- UniProt VAR 075158
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Long QT syndrome; not provided)
- EBI: Pathogenic (in LQT8)
- UniProt: Pathogenic (in LQT8)
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. (PMID 24728418)
- Cited in: Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic… (PMID 30345660)