Q248* (p.Gln248Ter) variant of CACNA2D2 (Q9NY47)
Q248* (p.Gln248Ter) in CACNA2D2 (Q9NY47) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes population frequency data and structural context.
Q248* (p.Gln248Ter) variant details
- p.Gln248Ter
- rs1310940542
- gnomAD rs1310940542
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available