R1786H (p.Arg1786His) variant of CREBBP (CREB-binding protein)
R1786H (p.Arg1786His) 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 not provided; Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R1786H (p.Arg1786His) variant details
- p.Arg1786His
- rs988251457
- ClinGen CA276972266
- NCI-TCGA Cosmic COSV9926
- cosmic curated COSV99268
- Pathogenic/Likely pathogenic
- not provided; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic (in MKHK1)
- UniProt: Pathogenic (in MKHK1)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)