R1868Q (p.Arg1868Gln) variant of CREBBP (CREB-binding protein)
R1868Q (p.Arg1868Gln) 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 Autosomal dominant CREBBP-related disorders; Inborn genetic diseases; Rubinstein. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R1868Q (p.Arg1868Gln) variant details
- p.Arg1868Gln
- rs1567263168
- ClinGen CA394555924
- ClinVar RCV000782063
- ClinVar RCV002535428
- Pathogenic/Likely pathogenic
- Autosomal dominant CREBBP-related disorders; Inborn genetic diseases; Rubinstein
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.69
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant CREBBP-related disorders; Inborn genetic dise)
- EBI: Pathogenic (in MKHK1)
- UniProt: Pathogenic (in MKHK1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (PMID 29460469)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)