K8M (p.Lys8Met) variant of CACNA1D (Q01668)
K8M (p.Lys8Met) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
K8M (p.Lys8Met) variant details
- p.Lys8Met
- rs2471494442
- ClinGen CA2580070243
- ClinVar RCV002668041
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available