E26* (p.Glu26Ter) variant of CHD7 (Q9P2D1)
E26* (p.Glu26Ter) in CHD7 (Q9P2D1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes experimental measurements and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- NCI-TCGA Cosmic COSV7110
- cosmic curated COSV71107
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.481