C1723W (p.Cys1723Trp) variant of CREBBP (CREB-binding protein)
C1723W (p.Cys1723Trp) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Menke-Hennekam syndrome 1; 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.
C1723W (p.Cys1723Trp) variant details
- p.Cys1723Trp
- rs146718571
- ClinGen CA394557997
- ClinVar RCV002249840
- ClinVar RCV005052854
- Pathogenic/Likely pathogenic
- Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome due to CREB)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)