R1867W (p.Arg1867Trp) variant of CREBBP (CREB-binding protein)
R1867W (p.Arg1867Trp) 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 Menke-Hennekam syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
R1867W (p.Arg1867Trp) variant details
- p.Arg1867Trp
- rs398124148
- ClinGen CA394555930
- ClinVar RCV001091530
- ClinVar RCV006636267
- Pathogenic/Likely pathogenic
- Menke-Hennekam syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (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)