G44* (p.Gly44Ter) variant of KRIT1 (O00522)

G44* (p.Gly44Ter) in KRIT1 (O00522) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

G44* (p.Gly44Ter) variant details