L614P (p.Leu614Pro) variant of CACNA1C (Q13936)
L614P (p.Leu614Pro) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects. The record also includes published literature.
L614P (p.Leu614Pro) variant details
- p.Leu614Pro
- UniProt VAR 087762
- Conflicting interpretations
- Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Neurodevelopmental disorder with hypotonia, language delay, and)
- 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)