S24* (p.Ser24Ter) variant of ADNP (Q9H2P0)
S24* (p.Ser24Ter) 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.
S24* (p.Ser24Ter) variant details
- p.Ser24Ter
- rs2122840680
- ClinGen CA2573054885
- ClinVar RCV001822110
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.572