L614R (p.Leu614Arg) variant of CACNA1C (Q13936)
L614R (p.Leu614Arg) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature.
L614R (p.Leu614Arg) variant details
- p.Leu614Arg
- UniProt VAR 087763
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in NEDHLSS)
- UniProt: Pathogenic (in NEDHLSS)
- 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)