L52F (p.Leu52Phe) variant of CACNA1E (Q15878)
L52F (p.Leu52Phe) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 69; not provided. The record also includes structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- rs766926616
- ClinGen CA343844462
- ClinVar RCV002223676
- ClinVar RCV003458849
- Uncertain significance
- Developmental and epileptic encephalopathy, 69; not provided
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 69; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available