L12* (p.Leu12Ter) variant of ADNP (Q9H2P0)
L12* (p.Leu12Ter) 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.
L12* (p.Leu12Ter) variant details
- p.Leu12Ter
- rs2515621585
- ClinGen CA408982509
- ClinVar RCV002824853
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.646