E1459G (p.Glu1459Gly) variant of CREBBP (CREB-binding protein)
E1459G (p.Glu1459Gly) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
E1459G (p.Glu1459Gly) variant details
- p.Glu1459Gly
- rs587783494
- ClinGen CA271411
- ClinVar RCV000145753
- Ensembl rs587783494
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.86
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.63
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)