E1278Q (p.Glu1278Gln) variant of CREBBP (CREB-binding protein)
E1278Q (p.Glu1278Gln) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The record also includes variant effect predictions, published literature, and structural context.
E1278Q (p.Glu1278Gln) variant details
- p.Glu1278Gln
- rs267606752
- ClinGen CA394567311
- ClinVar RCV002226836
- Ensembl rs267606752
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- MutPred 0.60
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)