R1378P (p.Arg1378Pro) variant of CREBBP (CREB-binding protein)
R1378P (p.Arg1378Pro) 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 CREBBP-related disorder; 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.
R1378P (p.Arg1378Pro) variant details
- p.Arg1378Pro
- rs121434626
- ClinGen CA254813
- ClinVar RCV000010037
- ClinVar RCV005249986
- Likely pathogenic
- CREBBP-related disorder; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.92
- CADD 35.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely pathogenic (CREBBP-related disorder; Rubinstein-Taybi syndrome due to CREBBP)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Population evidence available
- Structural context available
- Cited in: Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi… (PMID 11331617)
- Cited in: Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi… (PMID 25388907)