E42* (p.Glu42Ter) variant of ADNP (Q9H2P0)
E42* (p.Glu42Ter) in ADNP (Q9H2P0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- rs2122826639
- ClinGen CA408981655
- ClinVar RCV002274305
- Ensembl rs2122826639
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available