G1465E (p.Gly1465Glu) variant of CREBBP (CREB-binding protein)
G1465E (p.Gly1465Glu) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rubinstein-Taybi syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1465E (p.Gly1465Glu) variant details
- p.Gly1465Glu
- rs1555473491
- ClinGen CA394564268
- NCI-TCGA Cosmic COSV5211
- NCI-TCGA Cosmic COSV9926
- Pathogenic
- Rubinstein-Taybi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.93
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)