T1171R (p.Thr1171Arg) variant of CREBBP (CREB-binding protein)
T1171R (p.Thr1171Arg) 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 published literature and structural context.
T1171R (p.Thr1171Arg) variant details
- p.Thr1171Arg
- rs1567287477
- ClinGen CA394568761
- ClinVar RCV000760233
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)