D47M (p.Asp47Met) variant of GJA5 (Gap junction alpha-5 protein)
D47M (p.Asp47Met) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes population frequency data.
D47M (p.Asp47Met) variant details
- p.Asp47Met
- rs782528459
- NCI-TCGA Cosmic COSV5478
- Variant assessed as somatic; high impact.
- Missense
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available