S1684P (p.Ser1684Pro) variant of CREBBP (CREB-binding protein)
S1684P (p.Ser1684Pro) 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 0.40 / 1. The record also includes published literature and structural context.
S1684P (p.Ser1684Pro) variant details
- p.Ser1684Pro
- rs587783503
- ClinGen CA271427
- ClinVar RCV000145765
- Ensembl rs587783503
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.33
- MetaLR 0.30
- MetaSVM -0.33
- PolyPhen-2 0.82
- SIFT 0.03
- EVE 0.17
- 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)