S1687F (p.Ser1687Phe) variant of CREBBP (CREB-binding protein)
S1687F (p.Ser1687Phe) 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; Menke-Hennekam syndrome 1; Ru. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
S1687F (p.Ser1687Phe) variant details
- p.Ser1687Phe
- rs2151316542
- ClinGen CA394558449
- NCI-TCGA Cosmic COSV5211
- cosmic curated COSV52119
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1; Ru
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.83
- PolyPhen-2 0.48
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Henneka)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)