Y30* (p.Tyr30Ter) variant of ADNP (Q9H2P0)
Y30* (p.Tyr30Ter) in ADNP (Q9H2P0) is a protein-truncating change. The record also includes experimental measurements and structural context.
Y30* (p.Tyr30Ter) variant details
- p.Tyr30Ter
- Ensembl rs1982226508
- Stop Gained
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.0823