I82* (p.Ile82Ter) variant of CREBBP (CREB-binding protein)
I82* (p.Ile82Ter) in CREBBP (CREB-binding protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
I82* (p.Ile82Ter) variant details
- p.Ile82Ter
- rs1597054662
- ClinGen CA915949059
- ClinVar RCV000856841
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)