R1427S (p.Arg1427Ser) variant of CREBBP (CREB-binding protein)
R1427S (p.Arg1427Ser) 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 published literature and structural context.
R1427S (p.Arg1427Ser) variant details
- p.Arg1427Ser
- rs797045494
- ClinGen CA277444
- ClinVar RCV000195137
- Ensembl rs797045494
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.85
- 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)