E7K (p.Glu7Lys) variant of SPTBN4 (Q9H254)

E7K (p.Glu7Lys) in SPTBN4 (Q9H254) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E7K (p.Glu7Lys) variant details