F747L (p.Phe747Leu) variant of CACNA1D (Q01668)
F747L (p.Phe747Leu) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aldosterone-producing adenoma with seizures and neurological abnormalities. The record also includes structural context.
F747L (p.Phe747Leu) variant details
- p.Phe747Leu
- rs2473767558
- ClinGen CA353240414
- ClinVar RCV003493390
- cosmic curated COSV55457
- Likely pathogenic
- Aldosterone-producing adenoma with seizures and neurological abnormalities
- Missense
- ClinVar: Likely pathogenic (Aldosterone-producing adenoma with seizures and neurological abn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available