Q1491K (p.Gln1491Lys) variant of CREBBP (CREB-binding protein)
Q1491K (p.Gln1491Lys) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
Q1491K (p.Gln1491Lys) variant details
- p.Gln1491Lys
- rs201156486
- ClinGen CA276980080
- NCI-TCGA Cosmic COSV5212
- cosmic curated COSV52120
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- AlphaMissense 0.85
- MetaLR 0.93
- MetaSVM 1.08
- CADD 27.70
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)