F166L (p.Phe166Leu) variant of CACNA1C (Q13936)
F166L (p.Phe166Leu) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental delay. The record also includes published literature.
F166L (p.Phe166Leu) variant details
- p.Phe166Leu
- UniProt VAR 087755
- Likely pathogenic
- Neurodevelopmental delay
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental delay)
- 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)