S1179G (p.Ser1179Gly) variant of CREBBP (CREB-binding protein)
S1179G (p.Ser1179Gly) 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 record also includes variant effect predictions, published literature, and structural context.
S1179G (p.Ser1179Gly) variant details
- p.Ser1179Gly
- rs1596854023
- ClinGen CA394568709
- NCI-TCGA Cosmic COSV9906
- cosmic curated COSV99062
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- MutPred 0.45
- 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)