E48D (p.Glu48Asp) variant of SPTBN4 (Q9H254)
E48D (p.Glu48Asp) in SPTBN4 (Q9H254) is a missense change. The record also includes structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- Ensembl rs1362654488
- Missense
- Structural context available