R324W (p.Arg324Trp) variant of CACNA1C (Q13936)
R324W (p.Arg324Trp) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
R324W (p.Arg324Trp) variant details
- p.Arg324Trp
- UniProt VAR 087757
- Conflicting interpretations
- Long QT syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome 8; not provided)
- EBI: Pathogenic (in NEDHLSS)
- UniProt: Pathogenic (in NEDHLSS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. (PMID 34163037)
- Cited in: Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to… (PMID 30513141)