R1868W (p.Arg1868Trp) variant of CREBBP (CREB-binding protein)
R1868W (p.Arg1868Trp) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Menke-Hennekam syndrome; Menke-Hennekam syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R1868W (p.Arg1868Trp) variant details
- p.Arg1868Trp
- rs886039491
- ClinGen CA10588618
- ClinVar RCV000254930
- ClinVar RCV000757967
- Pathogenic
- Menke-Hennekam syndrome; Menke-Hennekam syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Menke-Hennekam syndrome; Menke-Hennekam syndrome 1; not provided)
- 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)