R1233K (p.Arg1233Lys) variant of CREBBP (CREB-binding protein)
R1233K (p.Arg1233Lys) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rubinstein-Taybi syndrome; Thumb deformity; Glaucoma. The record also includes variant effect predictions, published literature, and structural context.
R1233K (p.Arg1233Lys) variant details
- p.Arg1233Lys
- rs1057518844
- ClinGen CA16043514
- ClinVar RCV000415361
- ClinVar RCV001198296
- Pathogenic/Likely pathogenic
- Rubinstein-Taybi syndrome; Thumb deformity; Glaucoma
- Missense
- MutPred 0.49
- ClinVar: Pathogenic/Likely pathogenic (Rubinstein-Taybi syndrome; Thumb deformity; Glaucoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)