Q3* (p.Gln3Ter) variant of ADNP (Q9H2P0)
Q3* (p.Gln3Ter) in ADNP (Q9H2P0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- rs2515621745
- ClinGen CA408982648
- ClinVar RCV003694801
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.619