L1408V (p.Leu1408Val) variant of CACNA1C (Q13936)
L1408V (p.Leu1408Val) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CACNA1C-related disorder. The record also includes published literature.
L1408V (p.Leu1408Val) variant details
- p.Leu1408Val
- UniProt VAR 087769
- Uncertain significance
- CACNA1C-related disorder
- Missense
- ClinVar: Uncertain significance (CACNA1C-related disorder)
- 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)