R1347P (p.Arg1347Pro) variant of CREBBP (CREB-binding protein)
R1347P (p.Arg1347Pro) 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.
R1347P (p.Arg1347Pro) variant details
- p.Arg1347Pro
- rs1596813665
- ClinGen CA394565397
- ClinVar RCV000856870
- Ensembl rs1596813665
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- MutPred 0.64
- 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)