R1867Q (p.Arg1867Gln) variant of CREBBP (CREB-binding protein)
R1867Q (p.Arg1867Gln) 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; Menke-Hennekam syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R1867Q (p.Arg1867Gln) variant details
- p.Arg1867Gln
- rs1131691326
- ClinGen CA394555929
- ClinVar RCV000493961
- ClinVar RCV000757966
- Pathogenic/Likely pathogenic
- Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.95
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; not provid)
- EBI: Pathogenic (in MKHK1)
- UniProt: Pathogenic (in MKHK1)
- Structural context available
- Cited in: CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. (PMID 27311832)
- Cited in: Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (PMID 29460469)