R1446H (p.Arg1446His) variant of CREBBP (CREB-binding protein)
R1446H (p.Arg1446His) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R1446H (p.Arg1446His) variant details
- p.Arg1446His
- rs1057519884
- ClinGen CA16602826
- NCI-TCGA Cosmic COSV5211
- cosmic curated COSV52112
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.05
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)